Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1B	0	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													4	70					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238999	121238999	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121238999T>A	ENST00000297848.3	+	16	2268	c.1998T>A	c.(1996-1998)acT>acA	p.T666T	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T571T|COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	666	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)			GGGGGAAGACTGAGGAGGTGA	0.438000													6	48					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127721495	127721495	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:127721495C>T	ENST00000354725.3	+	18	2246	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	684					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						GCTACAAGCCCGTGTTTGTGA	0.597000													17	19					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552718	14552718	+	RNA	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:14552718C>T	ENST00000273083.3	-	0	1952							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						ACCAGGTCCTCGCACTGCCGC	0.617000													12	28					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006361	145006361	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:145006361C>G	ENST00000322810.4	-	17	2599	c.2430G>C	c.(2428-2430)aaG>aaC	p.K810N	PLEC_ENST00000527096.1_Missense_Mutation_p.K696N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	810	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						TTTGGAGCTCCTTGATCTTCT	0.711000													44	29					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49912901	49912901	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:49912901A>G	ENST00000553127.1	+	12	1457	c.944A>G	c.(943-945)aAg>aGg	p.K315R	SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R|SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	315						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTTCTAAAGAAGATGACTCAT	0.398000													14	15					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27099994	27099994	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:27099994A>G	ENST00000350889.4	-	3	142	c.29T>C	c.(28-30)aTg>aCg	p.M10T	STMN4_ENST00000522908.1_Missense_Mutation_p.M10T|STMN4_ENST00000265770.7_Missense_Mutation_p.M10T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	10					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)		GAGCTCCTTCATCTTCTCTTT	0.572000													15	14					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76813927	76813927	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:76813927G>A	ENST00000529803.1	+	1	42	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	14					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGACATGCCGCTGGTCCTGG	0.692000													21	14					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972083	85972083	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:85972083G>T	ENST00000372117.3	+	15	1805	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y|CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	568	Cadherin 5.				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						CACACTGCTGGATGTCAATGA	0.517000													46	95					4.01344e-20	4.35868e-20	1	1	0
FCHO2	115548	broad.mit.edu	37	5	72364497	72364497	+	Silent	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:72364497T>G	ENST00000430046.2	+	19	1586	c.1470T>G	c.(1468-1470)ccT>ccG	p.P490P	FCHO2_ENST00000341845.6_Silent_p.P490P|FCHO2_ENST00000512348.1_Silent_p.P457P	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	490	Ser-rich.									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)		TCAGCCCACCTGTAACTTCCA	0.413000													38	23					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663415	13663415	+	Splice_Site	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:13663415G>A	ENST00000404922.3	+	9	2415	c.2296_splice	c.e9+1	p.D766_splice	FBLN2_ENST00000492059.1_Splice_Site_p.D766_splice|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	764	EGF-like 4; 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)			GAAGTGCGTGGGTAAGCCAGG	0.617000													9	14					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618359	28618359	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:28618359A>T	ENST00000395609.1	-	7	1170	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	138					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						TGGTAGTAGGAAACTGCCACA	0.582000													36	119					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556036	45556036	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:45556036C>T	ENST00000588982.1	-	4	1956	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A	ZBTB7C_ENST00000535628.2_Silent_p.A485A|ZBTB7C_ENST00000590800.1_Silent_p.A485A|ZBTB7C_ENST00000586438.1_Silent_p.A485A|ZBTB7C_ENST00000332053.2_Silent_p.A485A			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	485						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CGGCCCTCCACGCAGCAGGCT	0.736000													6	1					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661492	102661492	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:102661492C>G	ENST00000315274.6	-	9	1309	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	414	Hemopexin-like 3.				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)		CATGTGCTATCATTTTGGGAT	0.383000													28	19					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	99					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692036	20692036	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:20692036A>G	ENST00000315519.2	+	1	246	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	56					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)		ATCTCCTGACACTGCTAGGGA	0.478000													15	60					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021385	30021385	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:30021385G>A	ENST00000350119.4	-	2	349	c.159C>T	c.(157-159)ccC>ccT	p.P53P	DOC2A_ENST00000564944.1_Silent_p.P53P|DOC2A_ENST00000564979.1_Silent_p.P53P	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	53	Interaction with UNC13D and DYNLT1.				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						CCAGATgggcgggggcctccc	0.721000													31	22					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184071184	184071184	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:184071184C>T	ENST00000265593.4	-	17	2053	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	628	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)	TGTGAACGCTCGATGGAGCCC	0.632000													14	35					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:16149958A>G	ENST00000399408.2	+	12	1658	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000399410.3_Missense_Mutation_p.M495V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	495	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)	GGTGGCCCACATGAAGAGCAA	0.473000													11	41					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682948	20682948	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:20682948C>T	ENST00000404938.2	+	6	1108	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	336	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						CACAGGACATCGGCTGGTTTG	0.398000													5	37					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141029	5141029	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:5141029A>G	ENST00000380554.3	+	4	1057	c.405A>G	c.(403-405)ggA>ggG	p.G135G	AKR1C3_ENST00000439082.2_Silent_p.G16G|AKR1C3_ENST00000605149.1_Silent_p.G112G	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	135					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATGAAAATGGAAAAGTAATAT	0.413000													8	13					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52366244	52366244	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:52366244C>T	ENST00000420323.2	+	8	1381	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	374	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)		GTTCGCACAACGTGTGGTCCA	0.602000													12	14					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234541826	234541826	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:234541826G>C	ENST00000040877.1	-	24	3811	c.3812C>G	c.(3811-3813)gCc>gGc	p.A1271G	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1271					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)			AACTATAAGGGCTTGCTTCAG	0.363000													13	46					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171011	77171011	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:77171011G>A	ENST00000253506.5	+	2	1105	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000427363.2_Missense_Mutation_p.V246I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	246	3 X SP repeats.				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	p.V233I(1)		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)		CCGCGCCAGCGTCACTGAGGA	0.711000													25	8					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265354	75265354	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:75265354C>T	ENST00000325680.7	+	5	3478	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.G923G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	923	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)		GGAGGGCTGGCAGTCAGGAGA	0.642000													29	23					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537572	24537572	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:24537572A>C	ENST00000264463.4	-	3	950	c.443T>G	c.(442-444)aTc>aGc	p.I148S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	148	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)		ATGAATTTTGATCACAAACTC	0.418000										HNSCC(23;0.051)			27	108					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844931	248844931	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:248844931T>G	ENST00000342623.3	-	1	698	c.675A>C	c.(673-675)agA>agC	p.R225S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	225					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						CTGAAGGGATTCTGAGCACCG	0.488000													16	44					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49098537	49098537	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:49098537C>G	ENST00000376227.3	+	3	454	c.284C>G	c.(283-285)cCt>cGt	p.P95R	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	95										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCCAGTGAGCCTGACCTCCGA	0.607000													31	8					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:6228223C>T	ENST00000262450.3	-	2	293	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	65	Lys-rich.				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)		TTTCTTCTTCCGCTTCCCTTT	0.592000													18	79					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703549	55703549	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:55703549C>A	ENST00000301532.3	-	1	327	c.328G>T	c.(328-330)Gca>Tca	p.A110S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	110					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						TCTGTATCTGCAAAAGTACAG	0.438000													9	22					3.09899e-07	3.16159e-07	1	1	0
CTSZ	1522	broad.mit.edu	37	20	57571752	57571752	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:57571752C>A	ENST00000217131.5	-	5	861	c.743G>T	c.(742-744)tGg>tTg	p.W248L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	248					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTGATGCCCCACCCAGCCAC	0.448000													26	52					1.1804e-14	1.24188e-14	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	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	0.383000													4	104					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39597212	39597212	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr13:39597212C>T	ENST00000352251.3	-	8	1453	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	207	Pro-rich.																TGCATGTGGTCGGCATGGAGG	0.348000													24	11					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	rs139194307	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134					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)					GTCATCATCCGTTGTTGTCCA	0.398000													14	67					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18929042	18929042	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:18929042G>C	ENST00000379942.4	-	20	2839	c.2174C>G	c.(2173-2175)gCc>gGc	p.A725G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	725					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)					TTTACGGTGGGCACTTAGAAC	0.358000													62	20					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:150558050C>T	ENST00000493429.1	+	7	2593	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M	AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000467291.1_Missense_Mutation_p.T670M					amine oxidase, copper containing 1																		GCCTGGGTGACGGTGGGCTTC	0.602000													33	35					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133174753	133174753	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:133174753G>A	ENST00000329321.3	+	1	607	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	46						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						TGGGCCTTCTGGGGAACAGCG	0.517000													60	11					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962374	2962374	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:2962374G>A	ENST00000396946.4	-	17	2566	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	721	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)		TCTGCCTCTCGCCTCGGATGC	0.617000			Mis		DLBCL								21	45					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771770	24771770	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:24771770G>A	ENST00000221166.5	+	1	1246	c.464G>A	c.(463-465)cGc>cAc	p.R155H	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R155H			P07197	NFM_HUMAN	neurofilament, medium polypeptide	155	Coil 1B.|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)		CAGGAGATCCGCGAGCTGCGC	0.652000													20	9					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18845998	18845998	+	RNA	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607000													8	43					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18845990	18845990	+	RNA	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582000													9	32					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955077	54955077	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000420798.2_Silent_p.R171R|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	0.512000													37	5					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32610504	32610504	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:32610504G>A	ENST00000343139.5	+	4	833	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	243					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			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGGCCTGCGTTCAGTTGGT	0.537000													65	122					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229143	38229143	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:38229143A>C	ENST00000558158.1	+	4	390	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	TMCO5A_ENST00000319669.4_Missense_Mutation_p.Q79P|TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	79						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGAGCCTTGCAGGAGCTGGAG	0.488000													24	6					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331092	20331092	+	Splice_Site	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:20331092T>C	ENST00000302555.5	-	6	1008		c.e6-2		GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000573897.1_Splice_Site|GP2_ENST00000381360.5_Splice_Site			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)							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						TTGATTTCTCTTTGGCAAAAA	0.388000													56	56					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23232558	23232558	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:23232558A>G	ENST00000400191.3	+	10	1862	c.1844A>G	c.(1843-1845)gAa>gGa	p.E615G	EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G|EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	615					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)		TTTGCCAAGGAAATTGACATC	0.532000													18	15					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:2541172C>T	ENST00000288709.6	-	5	604	c.364G>A	c.(364-366)Gag>Aag	p.E122K	MMEL1_ENST00000378412.3_Missense_Mutation_p.E131K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131					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)		GAGTTGGTCTCAGGGATCACG	0.617000													14	41					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:109801533C>T	ENST00000271332.3	+	2	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1264	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)		CGTGCTCTTCCGGCCCATCCA	0.697000													9	17					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	27					1	1	1	1	0
OR4D2	124538	broad.mit.edu	37	17	56247337	56247337	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:56247337G>T	ENST00000545221.1	+	1	321	c.321G>T	c.(319-321)ttG>ttT	p.L107F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	107					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						TCCACTTTTTGGGAGGTGCCA	0.527000													61	15					5.7761e-15	6.14091e-15	1	1	0
WDR66	144406	broad.mit.edu	37	12	122361824	122361824	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:122361824G>T	ENST00000288912.4	+	3	1529	c.675G>T	c.(673-675)cgG>cgT	p.R225R	WDR66_ENST00000397454.2_Silent_p.R225R	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	225							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)		GGATCTCCCGGGAGTCACTGG	0.493000													25	52					1.64293e-13	1.71068e-13	1	1	0
RERE	473	broad.mit.edu	37	1	8684426	8684426	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:8684426G>C	ENST00000337907.3	-	4	973	c.339C>G	c.(337-339)atC>atG	p.I113M	RERE_ENST00000400907.2_Missense_Mutation_p.I113M|RERE_ENST00000400908.2_Missense_Mutation_p.I113M	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	113	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)		TCCGACTCTCGATATACACAC	0.368000													17	61					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957934	53957934	+	Silent	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:53957934T>C	ENST00000396328.1	-	14	2036	c.1797A>G	c.(1795-1797)agA>agG	p.R599R	WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000360509.5_Silent_p.R599R|WDR72_ENST00000559418.1_Silent_p.R609R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	599										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)		TAATTCGTGCTCTTTCTCCTG	0.373000													23	8					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220396	130220396	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:130220396A>T	ENST00000276211.5	+	10	1720	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	459					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						CTTGAGGAAGATCCAGTGAGT	0.473000													11	31					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630989	140630989	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:140630989C>T	ENST00000520439.1	-	2	700	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	213						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)			TTCTGCAGGGCACCCTTGGTC	0.567000													26	159					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60927360	60927360	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60927360G>C	ENST00000252999.3	-	4	691	c.625C>G	c.(625-627)Cgg>Ggg	p.R209G	LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G|LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	209	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)	GCGTCGTCCCGTGTGATGCGC	0.687000													6	17					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783751	102783751	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102783751C>T	ENST00000370215.3	-	3	526	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	101	PDZ 1.					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)		CCCCCGCGCACGCTGAAGCCC	0.582000													6	92					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60901785	60901785	+	Missense_Mutation	SNP	G	G	A	rs149220558	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60901785G>A	ENST00000252999.3	-	40	5312	c.5246C>T	c.(5245-5247)cCg>cTg	p.P1749L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1749	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)	GGGGTATGCCGGCTCCAGGAA	0.672000													26	48					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53467719	53467719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:53467719G>A	ENST00000504924.1	-	2	181	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	30							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTCTGGTCGTGCAGGTGGT	0.463000													25	14					0	0	1	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23690478	23690478	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:23690478C>A	ENST00000567107.1	-	2	244	c.192G>T	c.(190-192)gaG>gaT	p.E64D	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.E64D|GOLGA6L2_ENST00000345070.5_De_novo_Start_InFrame					golgin A6 family-like 2											breast(1)|endometrium(7)	8						AATGGCAACCCTCCGAAGTGG	0.502000													45	3					1.08114e-33	1.1869e-33	1	1	0
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					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)|p.Q400*(2)	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)		CTGCCTGGCTCAGAATTCACC	0.308000			"""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)			43	13					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:33947401G>A	ENST00000382102.3	-	6	1292	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	412					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(1)		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						AATAAATCCCGTCCCCAGGCC	0.488000													8	182					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50834308	50834308	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:50834308C>G	ENST00000398473.2	+	7	838	c.726C>G	c.(724-726)ttC>ttG	p.F242L	LARP4_ENST00000522085.1_Missense_Mutation_p.F242L|LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000293618.8_Missense_Mutation_p.F242L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	242	RRM.						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						ATATCACTTTCCAGTCAGACA	0.353000													12	14					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54410111	54410111	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:54410111C>T	ENST00000263431.3	+	18	2338	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C|PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	686					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)		CCCGGATGCCCGCAGCCCCAC	0.682000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	82					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025226	86025226	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:86025226C>T	ENST00000414626.2	+	3	1265	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R146C			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	146					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						ACATAGTAATCGTATAGATAG	0.358000													33	25					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61105561	61105561	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:61105561T>G	ENST00000394900.3	+	3	381	c.152T>G	c.(151-153)cTg>cGg	p.L51R	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	51	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						CGGGTGGCACTGCTGTCGGGT	0.687000													42	32					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76712656	76712656	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:76712656C>T	ENST00000369950.3	-	12	1459	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	424					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)				TGCTCTGCTCCGTCCACTGTC	0.438000													9	8					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616711	1616711	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:1616711C>T	ENST00000421627.2	+	6	1921	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	675					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)		ATGAACCTCGCGCTGGAAACG	0.672000													11	10					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140718978	140718978	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:140718978C>T	ENST00000394576.2	+	1	440	c.440C>T	c.(439-441)aCg>aTg	p.T147M	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)			GAAACCACTACGCCAGGATTC	0.453000													72	57					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:149557897G>A	ENST00000223210.4	+	7	1893	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	550					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						GATCTCCAGCGACCTCATGGC	0.512000													34	43					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71693851	71693851	+	Silent	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:71693851A>C	ENST00000361756.3	+	4	649	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.T64T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	96						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTATTTCACAGTGAAGCTGC	0.512000													25	78					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121535576	121535576	+	Nonstop_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121535576A>G	ENST00000305949.1	+	22	2760	c.2715A>G	c.(2713-2715)tgA>tgG	p.*905W		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	0					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)			GCAAGAAATGATACATAATCA	0.269000													21	110					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	27					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745372	135745372	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:135745372C>T	ENST00000375845.3	-	7	1100	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTCAGGTTTTCGCGTTTTACT	0.373000													18	11					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643541	6643541	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:6643541G>T	ENST00000299441.3	-	21	9777	c.9366C>A	c.(9364-9366)ggC>ggA	p.G3122G	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3122					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)		TCAGGCCACAGCCCCCCAGGA	0.662000													6	5					2.0095e-06	2.02959e-06	1	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													5	42					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2842328	2842328	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:2842328G>A	ENST00000380445.3	+	9	949	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.G293S	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	293					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						GATGGTGGTGGGCGATGCACC	0.622000													6	13					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304157	6304157	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr4:6304157T>C	ENST00000226760.1	+	8	2805	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	WFS1_ENST00000503569.1_Missense_Mutation_p.F879L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	879	Poly-Phe.				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)		GAAGTTCGCCTTCGACTTCTT	0.622000													33	12					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352425	103352425	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:103352425G>A	ENST00000358392.2	-	63	5149	c.4832C>T	c.(4831-4833)aCt>aTt	p.T1611I	COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T1599I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1599	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)		ATTGGTCTGAGTACCCATTGG	0.403000													12	38					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(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)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<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	6					6.97489e-18	7.49429e-18	1	1	0
ECSIT	51295	broad.mit.edu	37	19	11624812	11624812	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:11624812A>C	ENST00000270517.7	-	3	456	c.321T>G	c.(319-321)atT>atG	p.I107M	ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	107					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						AGATGAAGTCAATGTGGCCCC	0.602000													66	17					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102054719A>G	ENST00000318222.3	-	8	1900	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	506					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)		TGAAAGTGCTAAAGTTTTCCA	0.542000													13	32					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28264666	28264666	+	Missense_Mutation	SNP	G	G	C	rs115946459	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:28264666G>C	ENST00000405948.2	+	5	1136	c.716G>C	c.(715-717)cGg>cCg	p.R239P	PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	239					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.R239Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTCTGACTCGGAGGAACCTC	0.507000													15	83					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117686852	117686852	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:117686852T>A	ENST00000368508.3	-	19	3063	c.2865A>T	c.(2863-2865)tcA>tcT	p.S955S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.S950S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	955	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)		CAATCCTAAATGAAGACTCTT	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								21	4					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100181217	100181217	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:100181217C>T	ENST00000414213.1	-	12	1849	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	416	Cytochrome b561.				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)		TGAACATGAGCATCCGATGCA	0.418000													16	16					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122247220	122247220	+	Silent	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:122247220A>T	ENST00000360356.2	-	11	2783	c.2556T>A	c.(2554-2556)ccT>ccA	p.P852P	PARP9_ENST00000477522.2_Silent_p.P817P|PARP9_ENST00000471785.1_Silent_p.P817P|PARP9_ENST00000492382.1_Silent_p.P397P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	852					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)		ATTAATCAACAGGGCTGCCAC	0.453000													28	48					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154680586_154680588delGCT	ENST00000271915.3	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)ctc>c	p.QL687del	KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692						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)			GCAGACAGGAGCTGCTGCTGCTG	0.640													9	325	---	---	---	---					
ZBTB7B	51043	broad.mit.edu	37	1	154987310	154987312	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154987310_154987312delCTT	ENST00000368426.3	+	3	311_313	c.174_176delCTT	c.(172-177)tac>ta	p.YF58del	ZBTB7B_ENST00000292176.2_In_Frame_Del_p.YF58del|ZBTB7B_ENST00000417934.2_In_Frame_Del_p.YF92del|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.YF58del	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	58	BTB.				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)			GTAGCCACTACTTCAAGAAGCTT	0.650													232	51	---	---	---	---					
KIF14	9928	broad.mit.edu	37	1	200522651	200522653	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:200522651_200522653delTTC	ENST00000367350.4	-	30	5248_5250	c.4810_4812delGAA	c.(4810-4812)del	p.E1604del		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1604	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						ATTGTTGGTGTTCTTCTTTGGTA	0.419													13	29	---	---	---	---					
AC012363.13	0	broad.mit.edu	37	2	121080891	121080893	+	RNA	DEL	CCT	CCT	-	rs138298647	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:121080891_121080893delCCT	ENST00000437837.1	+	0	132																											CTGCCTCCCCCCTCCTCCTCCTC	0.542													3	6	---	---	---	---					
GNAI2	2771	broad.mit.edu	37	3	50290582	50290582	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:50290582delT	ENST00000313601.6	+	4	814	c.430delT	c.(430-432)cafs	p.S144fs	GNAI2_ENST00000422163.1_Frame_Shift_Del_p.S128fs|GNAI2_ENST00000451956.1_Frame_Shift_Del_p.S107fs|GNAI2_ENST00000440628.1_Frame_Shift_Del_p.S92fs|GNAI2_ENST00000536647.1_Frame_Shift_Del_p.S63fs|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Frame_Shift_Del_p.S128fs	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	144					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	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)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTTTGGCCGCTCAAGGGAATA	0.657													13	232	---	---	---	---					
ALG1L2	0	broad.mit.edu	37	3	129816899	129816900	+	RNA	INS	-	-	ATG			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:129816899_129816900insATG	ENST00000507643.1	+	0	647							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										TTCCAGAAAGCATGTCAAGATG	0.589													3	4	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589632	67589643	+	In_Frame_Del	DEL	ATTATATGAAGA	ATTATATGAAGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:67589632_67589643delATTATATGAAGA	ENST00000521381.1	+	11	2011_2022	c.1395_1406delATTATATGAAGA	c.(1393-1407)aga>ag	p.RLYEE465del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.RLYEE102del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.RLYEE195del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.RLYEE165del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.RLYEE465del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	465					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.D434_Q475del(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)	AATATGATAGATTATATGAAGAATATACCCGC	0.288			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			19	26	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72425328	72425328	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:72425328delA	ENST00000359373.5	-	4	1399	c.548delT	c.(547-549)tafs	p.L183fs	ARAP1_ENST00000455638.2_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000334211.8_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	183					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						AGGGGATGATAATGATGGCAG	0.592													2	4	---	---	---	---					
ACSS3	79611	broad.mit.edu	37	12	81471942	81471942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:81471942delG	ENST00000548058.1	+	1	953	c.43delG	c.(43-45)ggfs	p.G16fs	ACSS3_ENST00000261206.3_Frame_Shift_Del_p.G16fs			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	16						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						CACCAGCGCCGGGGGGCTCGG	0.697													2	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		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)		GCCGCCGCCGcctcctcctcctc	0.773													4	4	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25438450	25438451	+	RNA	INS	-	-	TGG			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:25438450_25438451insTGG	ENST00000424208.1	+	0	1309_1310				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						ATGCGCCGGGAAGGACGTGCCC	0.545													16	493	---	---	---	---					
PRSS29P	0	broad.mit.edu	37	16	1311513	1311514	+	RNA	INS	-	-	GGCA	rs5815085	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:1311513_1311514insGGCA	ENST00000568091.1	-	0	1353																											GGTGGGAGCAGGGCAGGCAGGC	0.708													3	5	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183625	+	RNA	DEL	T	T	-	rs11296516		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:81183625delT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_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						TTGTTCACACttttttttttt	0.468													2	4	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89351717	89351728	+	In_Frame_Del	DEL	CGACGTGTCTGA	CGACGTGTCTGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:89351717_89351728delCGACGTGTCTGA	ENST00000301030.4	-	9	1682_1693	c.1222_1233delTCAGACACGTCG	c.(1222-1233)del	p.SDTS408del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	408						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)		CCTCCTCGTCCGACGTGTCTGACAGGATACGA	0.462													22	33	---	---	---	---					
RP11-53I6.2	0	broad.mit.edu	37	18	29656287	29656288	+	RNA	INS	-	-	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:29656287_29656288insT	ENST00000583184.1	+	0	539																											ttgtttttttgttttttttttg	0.441													3	6	---	---	---	---					
ATF5	22809	broad.mit.edu	37	19	50436066	50436068	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:50436066_50436068delCTT	ENST00000423777.2	+	3	943_945	c.566_568delCTT	c.(565-570)cct>c	p.PS189del	ATF5_ENST00000595125.1_In_Frame_Del_p.PS189del|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	189	Interaction with PTP4A1 (By similarity).|Poly-Pro.				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)		CCCCCTCCTCCTTCTCCACCTCA	0.640													11	18	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55816083	55816083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:55816083delC	ENST00000309383.1	+	14	1789	c.1512delC	c.(1510-1512)ggfs	p.G504fs	BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G520fs|BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G199fs|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	504	Pro-rich.				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)		CCCTGCCCGGCCCCCCAGGCT	0.771													3	3	---	---	---	---					
