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
MR1	3140	broad.mit.edu	37	1	181018211	181018211	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:181018211C>T	ENST00000367580.5	+	2	96	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.R31C|MR1_ENST00000282990.6_Missense_Mutation_p.R31C|MR1_ENST00000367579.3_Missense_Mutation_p.R31C	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	31	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAGATATTTTCGCCTGGGCGT	0.512000													4	53					0	0	0.217242	0	0
NPNT	255743	broad.mit.edu	37	4	106888393	106888393	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:106888393C>T	ENST00000379987.2	+	11	1610	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	NPNT_ENST00000305572.8_Missense_Mutation_p.A436V|NPNT_ENST00000514622.1_Missense_Mutation_p.A436V|NPNT_ENST00000506666.1_Missense_Mutation_p.A466V|NPNT_ENST00000453617.2_Missense_Mutation_p.A482V|NPNT_ENST00000427316.2_Missense_Mutation_p.A495V	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	465	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGGGGAAAAGCTGCACGCTTG	0.567000													19	18					0	0	0.189662	0	0
OR52R1	119695	broad.mit.edu	37	11	4824735	4824735	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:4824735G>A	ENST00000380382.1	-	1	1112	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Silent_p.P292P			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAAATGATGGGGTTGAGCA	0.468000													109	112					0	0	0.139131	0	0
CES5A	221223	broad.mit.edu	37	16	55895372	55895372	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:55895372C>T	ENST00000521992.1	-	8	1099	c.954G>A	c.(952-954)ctG>ctA	p.L318L	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.L289L|CES5A_ENST00000290567.9_Silent_p.L289L|CES5A_ENST00000520435.1_Silent_p.L259L|CES5A_ENST00000518005.1_Silent_p.L183L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	289						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAGGCACCTCAGCAGGGCCT	0.552000													9	109					0	0	0.058154	0	0
RYR2	6262	broad.mit.edu	37	1	237947067	237947067	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:237947067A>T	ENST00000366574.2	+	90	12372	c.12055A>T	c.(12055-12057)Atg>Ttg	p.M4019L	RYR2_ENST00000542537.1_Missense_Mutation_p.M4003L|RYR2_ENST00000360064.6_Missense_Mutation_p.M4025L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4019					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTTTGACATGTTCTTAAA	0.403000													6	57					0	0	0.029380	0	0
ZNF275	10838	broad.mit.edu	37	X	152610221	152610221	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:152610221G>A	ENST00000440091.1	+	2	102	c.102G>A	c.(100-102)ggG>ggA	p.G34G	ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000421401.3_Intron			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	0						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AATATTATGGGAACGTGACCT	0.522000													14	80					0	0	0.132662	0	0
BAI1	575	broad.mit.edu	37	8	143561102	143561102	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:143561102A>T	ENST00000517894.1	+	9	2669	c.1775A>T	c.(1774-1776)aAg>aTg	p.K592M	BAI1_ENST00000323289.5_Missense_Mutation_p.K592M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	592					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGATCTGGAAGGAGACCCCA	0.642000													15	34					0	0	0.219247	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559700	140559700	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:140559700G>T	ENST00000239444.2	+	1	2330	c.2085G>T	c.(2083-2085)ttG>ttT	p.L695F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCGTTGGCCTCGGTGT	0.677000													39	47					7.05121e-23	1.06688e-22	0.117977	1	0
VASH1	22846	broad.mit.edu	37	14	77236310	77236310	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:77236310C>T	ENST00000167106.4	+	2	947	c.314C>T	c.(313-315)cCc>cTc	p.P105L	VASH1_ENST00000554237.1_Missense_Mutation_p.P105L|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	105					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCCCAGATCCCCATACCGAGT	0.597000													20	17					0	0	0.069288	0	0
FAM135B	51059	broad.mit.edu	37	8	139277996	139277996	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:139277996T>A	ENST00000395297.1	-	4	417	c.247A>T	c.(247-249)Ata>Tta	p.I83L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	83										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATCATTTATGGGTACCTCT	0.493000										HNSCC(54;0.14)			39	57					0	0	0.098360	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464978	5464978	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:5464978G>T	ENST00000296564.7	+	13	5753	c.5531G>T	c.(5530-5532)aGt>aTt	p.S1844I		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1844										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACACTGAGAAGTGCTAAAAGA	0.522000													9	52					5.16669e-11	6.74253e-11	0.080935	1	0
HSPA12A	259217	broad.mit.edu	37	10	118434798	118434798	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:118434798G>T	ENST00000369209.3	-	12	1626	c.1522C>A	c.(1522-1524)Cag>Aag	p.Q508K		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	508							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCCACGTCCTGGGGGATGATG	0.667000													8	4					5.18039e-06	5.89143e-06	0.038147	1	0
PHKA1	5255	broad.mit.edu	37	X	71840577	71840577	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:71840577T>A	ENST00000339490.3	-	19	2435	c.2135A>T	c.(2134-2136)cAg>cTg	p.Q712L	PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.Q712L|PHKA1_ENST00000373542.4_Missense_Mutation_p.Q712L|PHKA1_ENST00000373545.3_Intron	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	712					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTACTCACTCTGTACATGCAG	0.512000													14	31					0	0	0.105934	0	0
METAP1D	254042	broad.mit.edu	37	2	172945095	172945095	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:172945095G>T	ENST00000315796.4	+	10	1356	c.969G>T	c.(967-969)agG>agT	p.R323S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	323					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TCACGTCGAGGGGCGCGCAGA	0.607000													36	55					8.16904e-11	1.0634e-10	0.098360	1	0
SERPINB5	5268	broad.mit.edu	37	18	61154283	61154283	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:61154283G>T	ENST00000382771.4	+	3	565	c.273G>T	c.(271-273)cgG>cgT	p.R91R	SERPINB5_ENST00000489441.1_Silent_p.R91R	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	91					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TAATCAAGCGGCTCTACGTAG	0.343000													8	7					5.18039e-06	5.89143e-06	0.038147	1	0
FAM188B	84182	broad.mit.edu	37	7	30915112	30915112	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:30915112A>G	ENST00000265299.6	+	15	1889	c.1812A>G	c.(1810-1812)gaA>gaG	p.E604E	AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Silent_p.E67E	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	604										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGCAGGAACTTGTCAATC	0.478000													11	274					0	0	0.069234	0	0
CCDC115	84317	broad.mit.edu	37	2	131098596	131098596	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:131098596C>G	ENST00000259229.2	-	4	538	c.315G>C	c.(313-315)aaG>aaC	p.K105N	CCDC115_ENST00000437688.2_Missense_Mutation_p.K100N|CCDC115_ENST00000409127.1_Missense_Mutation_p.K100N	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	105						endosome|lysosome		p.K105N(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TAGTGGGGCCCTTGCGCCTCC	0.552000													4	11					0	0	0.184627	0	0
LINC00923	91948	broad.mit.edu	37	15	98417282	98417282	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:98417282C>G	ENST00000503874.3	-	1	498	c.234G>C	c.(232-234)aaG>aaC	p.K78N																								CGAACTGCCTCTTGCCAATTT	0.493000													3	4					0	0	0.150653	0	0
STS	412	broad.mit.edu	37	X	7243484	7243484	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:7243484A>T	ENST00000217961.4	+	8	1421	c.1201A>T	c.(1201-1203)Atg>Ttg	p.M401L		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	401					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CACTAGCAACATGGACATATT	0.522000									Ichthyosis				5	92					0	0	0.029380	0	0
FBN2	2201	broad.mit.edu	37	5	127697428	127697428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:127697428C>A	ENST00000508053.1	-	25	3516	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E848*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.E815*			P35556	FBN2_HUMAN	fibrillin 2	848	EGF-like 12; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCACAGGTCTCTGTCTCAGTC	0.443000													29	74					3.65163e-15	5.13787e-15	0.116897	1	0
CASS4	57091	broad.mit.edu	37	20	55012273	55012273	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:55012273G>T	ENST00000371336.3	+	2	291	c.90G>T	c.(88-90)ctG>ctT	p.L30L	CASS4_ENST00000434344.1_Silent_p.L30L|CASS4_ENST00000360314.3_Silent_p.L30L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	30	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGACGAGCTGGCTTTCAGCA	0.587000													48	196					1.46357e-32	2.28055e-32	0.139131	1	0
TRPS1	7227	broad.mit.edu	37	8	116616277	116616277	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:116616277T>A	ENST00000395715.3	-	4	2496	c.1919A>T	c.(1918-1920)gAt>gTt	p.D640V	TRPS1_ENST00000220888.5_Missense_Mutation_p.D627V|TRPS1_ENST00000519674.1_Missense_Mutation_p.D627V|TRPS1_ENST00000519076.1_Splice_Site_p.D381_splice|TRPS1_ENST00000520276.1_Missense_Mutation_p.D631V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	627	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGAGTACATCTACGTCAGG	0.517000									Langer-Giedion syndrome				17	63					0	0	0.146539	0	0
DNAH9	1770	broad.mit.edu	37	17	11622753	11622753	+	Silent	SNP	C	C	G	rs111713622		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:11622753C>G	ENST00000262442.3	+	27	5723	c.5655C>G	c.(5653-5655)cgC>cgG	p.R1885R	DNAH9_ENST00000454412.2_Silent_p.R1885R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTGGGCCGCGCACTGGGCA	0.622000													10	61					0	0	0.058154	0	0
UBR2	23304	broad.mit.edu	37	6	42626495	42626495	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:42626495G>A	ENST00000372899.1	+	29	3433	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	UBR2_ENST00000372883.3_Missense_Mutation_p.M566I|UBR2_ENST00000372901.1_Missense_Mutation_p.E1059K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1059					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTTATTGATGAAAACAAAGA	0.378000													4	47					0	0	0.150653	0	0
TLR8	51311	broad.mit.edu	37	X	12940114	12940114	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:12940114G>A	ENST00000218032.6	+	2	3042	c.2955G>A	c.(2953-2955)caG>caA	p.Q985Q	TLR8_ENST00000311912.5_Silent_p.Q1003Q	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	985	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGTTACAGCATTCTCAGT	0.458000													18	42					0	0	0.099896	0	0
PPIF	10105	broad.mit.edu	37	10	81111255	81111255	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:81111255A>C	ENST00000225174.3	+	4	399	c.328A>C	c.(328-330)Acc>Ccc	p.T110P	PPIF_ENST00000394579.3_Missense_Mutation_p.T110P	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	110	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	GGGCGACTTCACCAACCACAA	0.637000													3	6					0	0	0.150653	0	0
FAM45B	55855	broad.mit.edu	37	X	129629472	129629472	+	RNA	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:129629472C>G	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TAGAATGTACCTGAAACATGG	0.403000													46	182					0	0	0.139131	0	0
OR1L6	392390	broad.mit.edu	37	9	125512600	125512600	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:125512600G>A	ENST00000373684.1	+	1	582	c.582G>A	c.(580-582)ctG>ctA	p.L194L	OR1L6_ENST00000304720.2_Silent_p.L158L			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TACATTCCCTGTTCCGCGTGC	0.498000													39	97					0	0	0.139131	0	0
PRMT2	3275	broad.mit.edu	37	21	48071791	48071791	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:48071791G>T	ENST00000334494.4	+	7	895	c.728G>T	c.(727-729)tGc>tTc	p.C243F	PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000397637.1_Intron|PRMT2_ENST00000397638.2_Intron	NM_001242865.1	NP_001229794.1	P55345	ANM2_HUMAN	protein arginine methyltransferase 2	0	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CTCCTGGCCTGCTGTCTGCCT	0.632000													74	108					2.72187e-29	4.21607e-29	0.139131	1	0
MUT	4594	broad.mit.edu	37	6	49426988	49426988	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:49426988C>A	ENST00000274813.3	-	2	319	c.192G>T	c.(190-192)ccG>ccT	p.P64P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	64					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGATCCCTTCCGGGGTGTGCC	0.483000													25	31					3.6726e-16	5.26675e-16	0.091800	1	0
PREX1	57580	broad.mit.edu	37	20	47269937	47269937	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:47269937G>T	ENST00000396220.1	-	20	2330	c.2308C>A	c.(2308-2310)Cac>Aac	p.H770N	PREX1_ENST00000371941.3_Missense_Mutation_p.H770N			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	770					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCTGGAAGTGCTCCAGGACC	0.602000													8	114					3.09899e-07	3.69331e-07	0.047766	1	0
SLC16A14	151473	broad.mit.edu	37	2	230910766	230910766	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:230910766A>G	ENST00000295190.4	-	4	1534	c.1076T>C	c.(1075-1077)aTa>aCa	p.I359T		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	359						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AACTATTGCTATAATTGACGT	0.443000													3	55					0	0	0.115264	0	0
CCDC57	284001	broad.mit.edu	37	17	80130706	80130706	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:80130706T>C	ENST00000389641.4	-	11	1573	c.1537A>G	c.(1537-1539)Agt>Ggt	p.S513G	CCDC57_ENST00000392343.3_Missense_Mutation_p.S513G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.S513G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	513										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AAGTCTTTACTTATTTCTTCT	0.478000													5	21					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179612314	179612314	+	Missense_Mutation	SNP	A	A	G	rs140786524		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:179612314A>G	ENST00000360870.5	-	46	15035	c.14813T>C	c.(14812-14814)aTg>aCg	p.M4938T	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1065							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACCTCCATTGAAGTGAT	0.423000													28	94					0	0	0.125774	0	0
OR52D1	390066	broad.mit.edu	37	11	5510137	5510137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:5510137C>A	ENST00000322641.5	+	1	223	c.201C>A	c.(199-201)tgC>tgA	p.C67*	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCCTCTGCCTTCTCTCAC	0.512000													32	92					1.08312e-15	1.54057e-15	0.144211	1	0
BMP2K	55589	broad.mit.edu	37	4	79766106	79766106	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:79766106G>A	ENST00000335016.5	+	5	737	c.571G>A	c.(571-573)Ggt>Agt	p.G191S	BMP2K_ENST00000502871.1_Missense_Mutation_p.G191S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	191	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTTGAATGATGGTGGGAACTA	0.269000													6	31					0	0	0.038147	0	0
NEBL	10529	broad.mit.edu	37	10	21120401	21120401	+	Splice_Site	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:21120401C>A	ENST00000377122.4	-	15	1957		c.e15+1		NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTGTCTTACCTGGCTGGCC	0.433000													28	80					2.05212e-20	3.06936e-20	0.225048	1	0
EPHB2	2048	broad.mit.edu	37	1	23239019	23239019	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:23239019A>G	ENST00000400191.3	+	15	2797	c.2779A>G	c.(2779-2781)Atg>Gtg	p.M927V	EPHB2_ENST00000374627.1_Missense_Mutation_p.M922V|EPHB2_ENST00000374630.3_Missense_Mutation_p.M927V|EPHB2_ENST00000374632.3_Missense_Mutation_p.M928V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	927	SAM.				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)		GGCCATCAAGATGGGGCAGTA	0.592000													6	48					0	0	0.029380	0	0
ABCA1	19	broad.mit.edu	37	9	107560864	107560864	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:107560864C>A	ENST00000374736.3	-	37	5353	c.4959G>T	c.(4957-4959)gtG>gtT	p.V1653V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1653					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGACATCCACTGATGTGG	0.493000													31	70					8.16721e-17	1.18096e-16	0.153744	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117365197	117365197	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:117365197G>A	ENST00000160373.3	-	18	4261	c.4170C>T	c.(4168-4170)caC>caT	p.H1390H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1390										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGGCTAGGGTGTCTTTTAG	0.512000													10	225					0	0	0.069234	0	0
KIF1C	10749	broad.mit.edu	37	17	4927272	4927272	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:4927272A>G	ENST00000320785.5	+	23	3495	c.3138A>G	c.(3136-3138)gcA>gcG	p.A1046A		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1046	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGGGTTCTGCACAGCCTGAAC	0.701000													17	25					0	0	0.160694	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807817	15807817	+	Silent	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:15807817C>G	ENST00000550308.1	+	13	1877	c.1497C>G	c.(1495-1497)cgC>cgG	p.R499R	CYP4F12_ENST00000324632.9_Silent_p.R499R	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTGAGCCCCGCAGGAAGCTGG	0.607000													8	71					0	0	0.080935	0	0
OR51F2	119694	broad.mit.edu	37	11	4843075	4843075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:4843075C>T	ENST00000322110.5	+	1	525	c.460C>T	c.(460-462)Cga>Tga	p.R154*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCAATGCCCGAATTGCCAA	0.458000													35	392					0	0	0.193644	0	0
REST	5978	broad.mit.edu	37	4	57797251	57797251	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:57797251G>A	ENST00000309042.7	+	4	2541	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	743	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGTCCAGAAGGAGCCTGTTCA	0.557000													27	269					0	0	0.144211	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359070	64359070	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:64359070C>A	ENST00000377574.1	+	1	789	c.42C>A	c.(40-42)ggC>ggA	p.G14G	SLC22A12_ENST00000377567.2_Silent_p.G14G|SLC22A12_ENST00000336464.7_Silent_p.G14G|SLC22A12_ENST00000377572.1_Silent_p.G14G|SLC22A12_ENST00000473690.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	14					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GTGGCCTGGGCAGGTTCCAGG	0.607000													21	34					7.92952e-12	1.05323e-11	0.091800	1	0
IGF2R	3482	broad.mit.edu	37	6	160485482	160485482	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:160485482C>T	ENST00000356956.1	+	28	4084	c.3936C>T	c.(3934-3936)aaC>aaT	p.N1312N		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1312					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAAAAATGAACTTCACGGGGG	0.502000													6	170					0	0	0.038147	0	0
CENPF	1063	broad.mit.edu	37	1	214819597	214819597	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:214819597A>G	ENST00000366955.3	+	13	6852	c.6684A>G	c.(6682-6684)gaA>gaG	p.E2228E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2324	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTTGTCAGAACTAGACAAGT	0.358000													32	244					0	0	0.153744	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458165	53458165	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:53458165C>A	ENST00000331173.4	-	1	1190	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	382	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TAATGGCCCTCCCCTCATCTC	0.557000													17	61					2.35188e-11	3.10806e-11	0.175082	1	0
CXorf64	100130613	broad.mit.edu	37	X	125955322	125955322	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:125955322G>C	ENST00000371125.3	+	2	781	c.701G>C	c.(700-702)aGt>aCt	p.S234T		NM_001122716.1	NP_001116188.1	B1ATL7	CX064_HUMAN	chromosome X open reading frame 64	234	Pro-rich.																TTGTCTTCCAGTACTCCAGGT	0.502000													19	30					0	0	0.189662	0	0
DIEXF	27042	broad.mit.edu	37	1	210010463	210010463	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:210010463C>A	ENST00000491415.2	+	6	1026	c.969C>A	c.(967-969)gcC>gcA	p.A323A		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	323					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGCCAATGCCCAGGTGCTTG	0.517000													38	80					2.19489e-29	3.40991e-29	0.235728	1	0
KALRN	8997	broad.mit.edu	37	3	123946896	123946896	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:123946896G>T	ENST00000360013.3	+	2	254	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L	KALRN_ENST00000460856.1_Missense_Mutation_p.V43L|KALRN_ENST00000240874.3_Missense_Mutation_p.V43L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	43	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAAGGAAAAGGTGGCCTTCGT	0.448000													87	133					7.62712e-44	1.1992e-43	0.139131	1	0
DLGAP2	9228	broad.mit.edu	37	8	1624761	1624761	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:1624761G>T	ENST00000421627.2	+	8	2159	c.2025G>T	c.(2023-2025)ggG>ggT	p.G675G		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	754					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)		ACTCTGTCGGGGTGCAAGTGG	0.542000													4	7					0.00116845	0.00123218	0.217242	1	0
EEF1D	1936	broad.mit.edu	37	8	144668960	144668960	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:144668960T>C	ENST00000532741.1	-	2	1532	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	EEF1D_ENST00000529272.1_Missense_Mutation_p.D19G|EEF1D_ENST00000531621.1_Missense_Mutation_p.D19G|EEF1D_ENST00000526838.1_Missense_Mutation_p.D19G|EEF1D_ENST00000423316.2_Missense_Mutation_p.D385G|EEF1D_ENST00000419152.2_Missense_Mutation_p.D19G|EEF1D_ENST00000395119.3_Missense_Mutation_p.D19G|EEF1D_ENST00000532400.1_Missense_Mutation_p.D19G|EEF1D_ENST00000528610.1_Missense_Mutation_p.D19G|EEF1D_ENST00000317198.6_Missense_Mutation_p.D19G|EEF1D_ENST00000442189.2_Missense_Mutation_p.D385G|EEF1D_ENST00000524624.1_Missense_Mutation_p.D19G			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	19					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TTCTGCGTCGTCATATTTGAA	0.562000													5	63					0	0	0.038147	0	0
RUSC2	9853	broad.mit.edu	37	9	35547523	35547523	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:35547523T>A	ENST00000455600.1	+	2	1574	c.1005T>A	c.(1003-1005)taT>taA	p.Y335*		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	335						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGATGTCTTATGAGTCCCATC	0.567000													8	52					0	0	0.038147	0	0
CHD6	84181	broad.mit.edu	37	20	40050438	40050438	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:40050438T>C	ENST00000373233.3	-	31	5014	c.4837A>G	c.(4837-4839)Aga>Gga	p.R1613G		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1613					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCATAGTTTCTATAGGCATCC	0.488000													7	48					0	0	0.029380	0	0
ZNF492	57615	broad.mit.edu	37	19	22847646	22847646	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:22847646C>A	ENST00000456783.2	+	4	1419	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P392H(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATGT	0.383000													5	32					3.59834e-05	3.96272e-05	0.217242	1	0
ZNF354B	117608	broad.mit.edu	37	5	178309722	178309722	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:178309722C>T	ENST00000322434.3	+	5	495	c.269C>T	c.(268-270)aCa>aTa	p.T90I		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTAAGAGCACACCTAAAATG	0.368000													15	79					0	0	0.160694	0	0
ALPK1	80216	broad.mit.edu	37	4	113303646	113303646	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:113303646G>T	ENST00000458497.1	+	4	493	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L	ALPK1_ENST00000177648.9_Missense_Mutation_p.V72L|ALPK1_ENST00000504176.2_Intron	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	72							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAACAAGCCGTGGGCCCAGA	0.532000													23	36					5.26018e-13	7.11351e-13	0.234183	1	0
GPATCH2L	55668	broad.mit.edu	37	14	76647192	76647192	+	Splice_Site	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:76647192G>C	ENST00000261530.7	+	8	1259	c.1193_splice	c.e8+1	p.R398_splice	GPATCH2L_ENST00000312858.5_Splice_Site_p.R393_splice|GPATCH2L_ENST00000553588.1_Splice_Site_p.D19_splice|GPATCH2L_ENST00000556675.1_3'UTR	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		TGCTCTGCCAGGTAATTGTCT	0.428000													5	153					0	0	0.217242	0	0
REM2	161253	broad.mit.edu	37	14	23354108	23354108	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:23354108A>G	ENST00000267396.4	+	2	452	c.329A>G	c.(328-330)cAa>cGa	p.Q110R	REM2_ENST00000536884.1_Missense_Mutation_p.Q110R	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	110					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GCCCCTGCTCAAAAGGATGGC	0.617000													5	24					0	0	0.217242	0	0
ELP4	26610	broad.mit.edu	37	11	31616420	31616420	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:31616420G>T	ENST00000395934.2	+	4	492	c.485G>T	c.(484-486)tGg>tTg	p.W162L	ELP4_ENST00000350638.5_Missense_Mutation_p.W162L|ELP4_ENST00000379163.5_Missense_Mutation_p.W162L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	162					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AAAATAGCTTGGCGTTACCAG	0.318000													11	37					5.16669e-11	6.74253e-11	0.080935	1	0
PRKCZ	5590	broad.mit.edu	37	1	2106259	2106259	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:2106259G>C	ENST00000400921.2	+	12	1606	c.923G>C	c.(922-924)gGa>gCa	p.G308A	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.G308A	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	491	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GTTTTAAAAGGATTTTTAAAT	0.537000											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	33					0	0	0.105934	0	0
TRDN	10345	broad.mit.edu	37	6	123539833	123539833	+	Silent	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:123539833T>C	ENST00000334268.4	-	40	2396	c.2079A>G	c.(2077-2079)ggA>ggG	p.G693G	TRDN_ENST00000398178.3_Silent_p.G701G			Q13061	TRDN_HUMAN	triadin	701					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAAACTGAAATCCATAGCCAT	0.458000													4	24					0	0	0.184627	0	0
ZNF341	84905	broad.mit.edu	37	20	32332941	32332941	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:32332941A>T	ENST00000375200.1	+	3	540	c.175A>T	c.(175-177)Aag>Tag	p.K59*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.K59*			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGGGAAGTGTAAGAAGCAATT	0.527000													15	59					0	0	0.160694	0	0
C1orf173	127254	broad.mit.edu	37	1	75078352	75078352	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:75078352C>A	ENST00000326665.5	-	9	1360	c.1142G>T	c.(1141-1143)gGc>gTc	p.G381V	C1orf173_ENST00000420661.2_Missense_Mutation_p.G184V|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	381										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCAAAGTAGCCTCGTTTGCC	0.438000													13	69					3.27435e-08	3.98418e-08	0.119110	1	0
ATP10D	57205	broad.mit.edu	37	4	47560036	47560036	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:47560036G>T	ENST00000273859.3	+	12	2449	c.2180G>T	c.(2179-2181)aGc>aTc	p.S727I	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	727					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGGCCGAGAGCCCAGACGAA	0.567000													23	35					7.92952e-12	1.05323e-11	0.091800	1	0
AIFM1	9131	broad.mit.edu	37	X	129274513	129274513	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:129274513G>T	ENST00000287295.3	-	7	1006	c.776C>A	c.(775-777)gCa>gAa	p.A259E	AIFM1_ENST00000535724.1_Missense_Mutation_p.A172E|AIFM1_ENST00000319908.3_Missense_Mutation_p.A255E|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	259	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTCACCTGTTGCAATCAAGCA	0.413000													13	126					9.16793e-09	1.13944e-08	0.160694	1	0
MID2	11043	broad.mit.edu	37	X	107084310	107084310	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:107084310T>G	ENST00000262843.6	+	2	963	c.415T>G	c.(415-417)Tgc>Ggc	p.C139G	MID2_ENST00000443968.2_Missense_Mutation_p.C139G	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	139						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCGAATTGCTTGCCAATTCTG	0.577000													14	59					0	0	0.132662	0	0
MED12	9968	broad.mit.edu	37	X	70347238	70347238	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:70347238G>C	ENST00000333646.6	+	21	3101	c.2902G>C	c.(2902-2904)Gag>Cag	p.E968Q	MED12_ENST00000374102.1_Missense_Mutation_p.E968Q|MED12_ENST00000374080.3_Missense_Mutation_p.E968Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	968					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCCTCTGCAGAGCGCTGTAT	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	48					0	0	0.132662	0	0
ZNF318	24149	broad.mit.edu	37	6	43305759	43305759	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:43305759T>A	ENST00000361428.2	-	10	6054	c.5977A>T	c.(5977-5979)Ata>Tta	p.I1993L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1993					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGCTTTCTATTGTCACTGTT	0.478000													20	76					0	0	0.219247	0	0
TXNDC11	51061	broad.mit.edu	37	16	11782158	11782158	+	Splice_Site	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:11782158C>A	ENST00000356957.3	-	10	2232		c.e10+1		TXNDC11_ENST00000283033.5_Splice_Site|TXNDC11_ENST00000570917.1_Splice_Site			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11						cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGACTCCATACCTGTTTTTGA	0.423000													17	125					2.48551e-13	3.38756e-13	0.160694	1	0
NSF	4905	broad.mit.edu	37	17	44788392	44788392	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:44788392G>T	ENST00000398238.4	+	14	1641	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	NSF_ENST00000575068.1_Missense_Mutation_p.D507Y|NSF_ENST00000225282.8_Missense_Mutation_p.D418Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	512					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CAAATGGGGTGACCCAGTTAC	0.453000													8	70					1.12685e-05	1.26771e-05	0.047766	1	0
NFAT5	10725	broad.mit.edu	37	16	69681331	69681331	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:69681331A>G	ENST00000349945.1	+	5	1924	c.372A>G	c.(370-372)aaA>aaG	p.K124K	NFAT5_ENST00000354436.2_Silent_p.K200K|NFAT5_ENST00000567239.1_Silent_p.K218K|NFAT5_ENST00000566899.1_Silent_p.K124K|NFAT5_ENST00000393742.2_Silent_p.K124K|NFAT5_ENST00000432919.1_Silent_p.K218K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	200					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TACCTCGTAAATCACGAAAAC	0.463000													13	11					0	0	0.105934	0	0
SHANK1	50944	broad.mit.edu	37	19	51165487	51165487	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:51165487C>A	ENST00000293441.1	-	23	6239	c.6221G>T	c.(6220-6222)cGc>cTc	p.R2074L	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082L|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461L|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2074					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGAGAGGGAGCGCGAGGCCCC	0.687000													8	5					0.000157383	0.000170799	0.038147	1	0
ATF7	11016	broad.mit.edu	37	12	53994752	53994752	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:53994752G>A	ENST00000420353.2	-	2	182	c.33C>T	c.(31-33)gcC>gcT	p.A11A	ATF7_ENST00000328463.7_Silent_p.A11A|ATF7_ENST00000548118.2_Silent_p.A11A|ATF7_ENST00000548446.2_Silent_p.A11A|RP11-793H13.10_ENST00000591834.1_Silent_p.A11A|ATF7_ENST00000591397.1_Silent_p.A11A|ATF7_ENST00000415113.1_Silent_p.A11A|ATF7_ENST00000456903.4_Silent_p.A11A	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	11	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CACAGCCCGGGGCATTGCACA	0.438000													6	33					0	0	0.217242	0	0
USP53	54532	broad.mit.edu	37	4	120213653	120213653	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:120213653G>A	ENST00000450251.1	+	15	3053	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	USP53_ENST00000274030.6_Missense_Mutation_p.E837K			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	837					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGAAAATTCTGAGAGAACAGG	0.383000													14	69					0	0	0.132662	0	0
TTN	7273	broad.mit.edu	37	2	179594622	179594622	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:179594622C>T	ENST00000589042.1	-	63	18582	c.18358G>A	c.(18358-18360)Gga>Aga	p.G6120R	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4876R|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5803R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5803	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGACTGTCCATTCCTCAGC	0.383000													9	63					0	0	0.047766	0	0
ZNF292	23036	broad.mit.edu	37	6	87966730	87966730	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:87966730C>A	ENST00000369577.3	+	8	3426	c.3383C>A	c.(3382-3384)gCt>gAt	p.A1128D	ZNF292_ENST00000339907.4_Missense_Mutation_p.A1123D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A983D(1)|p.A1128D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GACCAATATGCTGCATTTAAA	0.393000													6	46					0.00198382	0.00207942	0.029380	1	0
CXorf66	347487	broad.mit.edu	37	X	139038644	139038644	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:139038644T>A	ENST00000370540.1	-	3	520	c.497A>T	c.(496-498)aAg>aTg	p.K166M		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	166	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GCATGATGACTTGGATGACCT	0.388000													47	206					0	0	0.139131	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221408	134221408	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:134221408G>A	ENST00000359579.4	+	5	756	c.436G>A	c.(436-438)Gag>Aag	p.E146K	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	146					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATAGGCCATGGAGGAGCTGGT	0.512000													5	68					0	0	0.217242	0	0
ATAD2	29028	broad.mit.edu	37	8	124359640	124359640	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:124359640C>A	ENST00000287394.5	-	16	2011	c.1904G>T	c.(1903-1905)tGt>tTt	p.C635F	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATCTGCTCCACAGTATCCTAT	0.393000													10	33					2.17888e-05	2.41994e-05	0.058154	1	0
CORIN	10699	broad.mit.edu	37	4	47746537	47746537	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:47746537C>A	ENST00000273857.4	-	5	680	c.681G>T	c.(679-681)ctG>ctT	p.L227L	CORIN_ENST00000504584.1_Silent_p.L227L|CORIN_ENST00000505909.1_Silent_p.L227L|CORIN_ENST00000508498.1_Silent_p.L88L|CORIN_ENST00000502252.1_Silent_p.L160L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	227	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACCATCCCCAGGACTGATT	0.453000													9	484					0.000978159	0.00104417	0.080935	1	0
BRWD3	254065	broad.mit.edu	37	X	79932142	79932142	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:79932142G>C	ENST00000373275.4	-	41	5591	c.5375C>G	c.(5374-5376)gCc>gGc	p.A1792G		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1792										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTAACCCTGGCTTTTTCTGT	0.363000													13	75					0	0	0.132662	0	0
DIP2C	22982	broad.mit.edu	37	10	373024	373024	+	Silent	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:373024C>G	ENST00000280886.6	-	31	3933	c.3846G>C	c.(3844-3846)ctG>ctC	p.L1282L		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1282						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTCCTTAAACAGCTTTGAGA	0.607000													29	40					0	0	0.163468	0	0
TRPC3	7222	broad.mit.edu	37	4	122853688	122853688	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:122853688T>A	ENST00000264811.5	-	1	924	c.506A>T	c.(505-507)cAc>cTc	p.H169L	TRPC3_ENST00000379645.3_Missense_Mutation_p.H242L|TRPC3_ENST00000513531.1_Missense_Mutation_p.H169L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	157					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTTCTGGCAGTGCGCCGCCAG	0.612000													10	58					0	0	0.105934	0	0
NDUFA13	51079	broad.mit.edu	37	19	19626829	19626829	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:19626829C>G	ENST00000252576.5	+	1	31	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	NDUFA13_ENST00000507754.3_5'UTR|TSSK6_ENST00000360913.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CACGCCCTGTCTGGGCAAAAG	0.607000													35	15					0	0	0.235728	0	0
MIR873	100126316	broad.mit.edu	37	9	28888880	28888880	+	RNA	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:28888880T>C	ENST00000401120.1	-	0	73					NR_030618.1																						GGAAGATTTGTGGGTGTTCCC	0.413000													13	20					0	0	0.146539	0	0
TG	7038	broad.mit.edu	37	8	133913644	133913644	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:133913644A>T	ENST00000220616.4	+	16	3520	c.3480A>T	c.(3478-3480)agA>agT	p.R1160S	TG_ENST00000377869.1_Missense_Mutation_p.R1160S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1160	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTCCAGGAGAGTCAGCCCAG	0.607000													8	81					0	0	0.069234	0	0
CIB4	130106	broad.mit.edu	37	2	26852375	26852375	+	Splice_Site	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:26852375C>T	ENST00000288861.4	-	3	143		c.e3-1			NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4								calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCATGGATGCTGAAAAGAGA	0.612000													2	5					0	0	0.115264	0	0
SYN1	6853	broad.mit.edu	37	X	47464643	47464643	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:47464643G>T	ENST00000295987.7	-	4	787	c.663C>A	c.(661-663)aaC>aaA	p.N221K	SYN1_ENST00000340666.4_Missense_Mutation_p.N221K	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	221	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TGTCACAGAAGTTGTAGACAG	0.522000													3	28					0.115264	0.117745	0.115264	1	0
GPR17	2840	broad.mit.edu	37	2	128408864	128408864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:128408864C>A	ENST00000544369.1	+	4	1250	c.639C>A	c.(637-639)taC>taA	p.Y213*	LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Nonsense_Mutation_p.Y213*|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000272644.3_Nonsense_Mutation_p.Y213*	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	213						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TGCAGCTGTACCGGGAGAAGG	0.652000													3	12					3.59834e-05	3.96272e-05	0.217242	1	0
CACNA1E	777	broad.mit.edu	37	1	181705572	181705572	+	Splice_Site	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:181705572T>A	ENST00000526775.1	+	21	3530		c.e21+2		CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCAACCCGTAAGCCACCCT	0.587000													13	34					0	0	0.105934	0	0
NOL4	8715	broad.mit.edu	37	18	31599491	31599491	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:31599491T>G	ENST00000261592.5	-	6	1144	c.847A>C	c.(847-849)Agc>Cgc	p.S283R	NOL4_ENST00000535475.1_Missense_Mutation_p.S128R|NOL4_ENST00000589544.1_Missense_Mutation_p.S283R|NOL4_ENST00000269185.4_Missense_Mutation_p.S169R|NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S209R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	283						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCTCCCTGCTGTGTGTTCCC	0.493000													13	26					0	0	0.119110	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410038	105410038	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:105410038T>C	ENST00000333244.5	-	7	11869	c.11750A>G	c.(11749-11751)gAc>gGc	p.D3917G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3917						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTGGGGTCTTTTAGGTC	0.602000													6	63					0	0	0.217242	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397857	23397857	+	Silent	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:23397857T>C	ENST00000379361.4	+	2	1361	c.501T>C	c.(499-501)aaT>aaC	p.N167N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	167					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGGCCACCAATCGGACCAATT	0.488000													19	58					0	0	0.175082	0	0
OR5M10	390167	broad.mit.edu	37	11	56344538	56344538	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:56344538G>T	ENST00000526812.2	-	1	725	c.660C>A	c.(658-660)ttC>ttA	p.F220L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGCAAAAATGAAAAGATAGG	0.448000													26	89					1.7881e-09	2.26551e-09	0.134883	1	0
ZNF574	64763	broad.mit.edu	37	19	42584008	42584008	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:42584008G>T	ENST00000600245.1	+	2	1905	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	ZNF574_ENST00000359044.4_Missense_Mutation_p.G417V|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.G507V			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGGGTAGGGGGTGTCCCTCTG	0.587000													50	44					2.84144e-21	4.26215e-21	0.139131	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481141	95481141	+	RNA	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:95481141G>T	ENST00000432432.2	-	0	2219					NR_040113.1																						GTTTGCTGCTGTGTTTTTCTT	0.348000													22	167					3.01185e-09	3.7884e-09	0.091800	1	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													4	65					0	0	0.184627	0	0
UNC5D	137970	broad.mit.edu	37	8	35608193	35608193	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:35608193G>C	ENST00000287272.2	+	12	1842	c.1822G>C	c.(1822-1824)Gcg>Ccg	p.A608P	UNC5D_ENST00000420357.1_Missense_Mutation_p.A610P|UNC5D_ENST00000449677.1_Missense_Mutation_p.A253P|UNC5D_ENST00000416672.1_Missense_Mutation_p.A682P|UNC5D_ENST00000453357.2_Missense_Mutation_p.A672P|UNC5D_ENST00000404895.2_Missense_Mutation_p.A677P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	677	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGGACCTATGCGCTCACTGG	0.507000													31	65					0	0	0.144211	0	0
LINC01410	103352539	broad.mit.edu	37	9	66466216	66466216	+	RNA	SNP	C	C	T	rs112543984		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:66466216C>T	ENST00000424345.1	+	0	849																											gtgactctctcctagcggaga	0.443000													5	17					0	0	0.029380	0	0
NRP1	8829	broad.mit.edu	37	10	33619677	33619677	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:33619677G>C	ENST00000265371.4	-	3	732	c.207C>G	c.(205-207)atC>atG	p.I69M	NRP1_ENST00000374816.3_Missense_Mutation_p.I69M|NRP1_ENST00000374821.5_Missense_Mutation_p.I69M|NRP1_ENST00000374822.4_Missense_Mutation_p.I69M|NRP1_ENST00000395995.1_Missense_Mutation_p.I69M|NRP1_ENST00000374823.5_Missense_Mutation_p.I69M|NRP1_ENST00000374867.2_Missense_Mutation_p.I69M			O14786	NRP1_HUMAN	neuropilin 1	69	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTTGAAGTTGATCATAATTC	0.478000													3	19					0	0	0.115264	0	0
ADCY5	111	broad.mit.edu	37	3	123166724	123166724	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:123166724C>T	ENST00000462833.1	-	1	1881	c.669G>A	c.(667-669)tcG>tcA	p.S223S		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	223					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGTTTGTCCGACGGGAACT	0.667000													3	11					0	0	0.217242	0	0
MMP16	4325	broad.mit.edu	37	8	89179958	89179958	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:89179958C>T	ENST00000286614.6	-	4	930	c.649G>A	c.(649-651)Gga>Aga	p.G217R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	217					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTATCTCCTCCAATTCCTGGT	0.408000													6	70					0	0	0.217242	0	0
TUBD1	51174	broad.mit.edu	37	17	57958410	57958410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:57958410C>A	ENST00000325752.3	-	4	659	c.382G>T	c.(382-384)Gag>Tag	p.E128*	TUBD1_ENST00000394239.3_Nonsense_Mutation_p.E128*|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.E128*|TUBD1_ENST00000376094.4_Nonsense_Mutation_p.E128*|TUBD1_ENST00000592426.1_Nonsense_Mutation_p.E128*|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000591611.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	128					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCACATTTCTCCACTTCCTTC	0.393000													19	89					2.37509e-13	3.27123e-13	0.219247	1	0
FAM47A	158724	broad.mit.edu	37	X	34150064	34150064	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:34150064T>A	ENST00000346193.3	-	1	383	c.332A>T	c.(331-333)cAg>cTg	p.Q111L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	111										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCGTGCTAGCTGGGCTGGAGA	0.542000													7	129					0	0	0.029380	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132629	52132629	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:52132629C>A	ENST00000222107.4	-	3	820	c.682G>T	c.(682-684)Gtc>Ttc	p.V228F	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.V228F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.V228F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.V228F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.V228F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	228	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTGAGCTGGACAGTTCTCTCC	0.597000													57	76					1.55545e-33	2.43097e-33	0.139131	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820937	62820937	+	RNA	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:62820937C>A	ENST00000582986.1	-	0	188					NR_024386.1																						TGTCCAGGGACACGTACTGCT	0.532000													24	58					9.57634e-11	1.2435e-10	0.083992	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711582	155711582	+	Silent	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:155711582T>C	ENST00000295101.2	+	3	1740	c.1263T>C	c.(1261-1263)tcT>tcC	p.S421S		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	421					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGATGAGTTCTACAACTTCAG	0.388000													6	190					0	0	0.029380	0	0
VPS13B	157680	broad.mit.edu	37	8	100520071	100520071	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:100520071C>T	ENST00000358544.2	+	28	4342	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGAACAGACGCACCTTGTT	0.458000													6	105					0	0	0.038147	0	0
PTPRT	11122	broad.mit.edu	37	20	40730771	40730771	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:40730771A>T	ENST00000373198.3	-	27	4008	c.3773T>A	c.(3772-3774)cTg>cAg	p.L1258Q	PTPRT_ENST00000356100.2_Missense_Mutation_p.L1245Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1239Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1236Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.L1246Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1235Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1226Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1236	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACATCCATCAGTGCTGCGTT	0.552000													5	78					0	0	0.184627	0	0
SI	6476	broad.mit.edu	37	3	164758884	164758884	+	Splice_Site	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:164758884T>A	ENST00000264382.3	-	18	2067		c.e18-2			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATCCTGATGCTGTGAGATAGA	0.318000										HNSCC(35;0.089)			92	104					0	0	0.139131	0	0
SEL1L3	23231	broad.mit.edu	37	4	25834645	25834645	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:25834645C>A	ENST00000399878.3	-	5	1192	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	SEL1L3_ENST00000502949.1_Missense_Mutation_p.R204L|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R322L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	357						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATATCCAGTCGAAACCACTC	0.398000													18	89					3.32936e-07	3.95883e-07	0.175082	1	0
SFMBT2	57713	broad.mit.edu	37	10	7247813	7247813	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:7247813T>C	ENST00000361972.4	-	12	1498	c.1408A>G	c.(1408-1410)Aat>Gat	p.N470D	SFMBT2_ENST00000397167.1_Missense_Mutation_p.N470D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	470					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGATAAGAATTGGCTTCACAC	0.488000													8	43					0	0	0.069234	0	0
PCDH18	54510	broad.mit.edu	37	4	138451915	138451915	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:138451915G>T	ENST00000344876.4	-	1	1714	c.1328C>A	c.(1327-1329)cCc>cAc	p.P443H	PCDH18_ENST00000412923.2_Missense_Mutation_p.P443H|PCDH18_ENST00000507846.1_Missense_Mutation_p.P223H|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	443	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGAGAGACTGGGTGTCCCCCT	0.368000													28	104					1.12875e-08	1.39955e-08	0.116897	1	0
MDP1	145553	broad.mit.edu	37	14	24683754	24683754	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:24683754G>T	ENST00000288087.7	-	4	372	c.261C>A	c.(259-261)ttC>ttA	p.F87L	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F104L|MDP1_ENST00000396833.2_Missense_Mutation_p.F87L	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						CAAAGTACCTGAAGAGGTCAA	0.488000													13	71					4.7546e-09	5.95181e-09	0.146539	1	0
ZNF772	400720	broad.mit.edu	37	19	57985636	57985636	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:57985636A>G	ENST00000343280.4	-	5	736	c.476T>C	c.(475-477)tTg>tCg	p.L159S	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.L47S|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.L118S	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GTGCTCAGCCAAGTGCAAAAT	0.502000													33	44					0	0	0.203993	0	0
LANCL3	347404	broad.mit.edu	37	X	37518781	37518781	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:37518781C>T	ENST00000378621.3	+	3	1066	c.764C>T	c.(763-765)tCa>tTa	p.S255L	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Missense_Mutation_p.S255L	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	255							catalytic activity			lung(4)|pancreas(1)	5						CTCAAGCCCTCAGATCGGGAA	0.478000													8	78					0	0	0.038147	0	0
MAGI1	9223	broad.mit.edu	37	3	65479268	65479268	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:65479268C>T	ENST00000330909.8	-	3	468	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.V157M|MAGI1_ENST00000497477.2_Missense_Mutation_p.V157M|MAGI1_ENST00000483466.1_Missense_Mutation_p.V157M	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	157	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTATAGTCCACGCCAGGCACT	0.473000													3	35					0	0	0.115264	0	0
SPTA1	6708	broad.mit.edu	37	1	158618311	158618311	+	Silent	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:158618311G>C	ENST00000368148.3	-	26	3882	c.3702C>G	c.(3700-3702)ccC>ccG	p.P1234P	SPTA1_ENST00000368147.3_Silent_p.P1234P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1234					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TATCTCCCAGGGGTACGAGGT	0.493000													9	156					0	0	0.047766	0	0
TKTL1	8277	broad.mit.edu	37	X	153551620	153551620	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:153551620G>A	ENST00000369915.3	+	9	1443	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	TKTL1_ENST00000369912.2_Silent_p.T362T|TKTL1_ENST00000217905.7_Silent_p.T158T	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	418					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAAGTGCACGATCTTCTACC	0.517000													7	158					0	0	0.047766	0	0
SH2B1	25970	broad.mit.edu	37	16	28883246	28883246	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:28883246G>A	ENST00000337120.5	+	5	4746	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Silent_p.G175G|SH2B1_ENST00000359285.5_Silent_p.G485G|SH2B1_ENST00000395532.4_Silent_p.G485G|SH2B1_ENST00000322610.8_Silent_p.G485G|SH2B1_ENST00000538342.1_Silent_p.G149G	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	485	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCAACAGGGACAGTTCATC	0.622000													10	58					0	0	0.058154	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763856	77763856	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:77763856C>A	ENST00000521891.2	+	10	5147	c.4699C>A	c.(4699-4701)Cat>Aat	p.H1567N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1522N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1522N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1541N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1522						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCTCACTTGCATAAGCTGAA	0.408000										HNSCC(33;0.089)			29	186					3.65163e-15	5.13787e-15	0.116897	1	0
PDGFRA	5156	broad.mit.edu	37	4	55141092	55141092	+	Missense_Mutation	SNP	C	C	A	rs143003840		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:55141092C>A	ENST00000257290.5	+	12	2069	c.1738C>A	c.(1738-1740)Ctg>Atg	p.L580M	FIP1L1_ENST00000507166.1_Splice_Site_p.L340_splice	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	580					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.L580M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCCGATGCAGCTGCCTTATGA	0.458000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	32					1.7881e-09	2.26551e-09	0.134883	1	0
LRRC16A	55604	broad.mit.edu	37	6	25450201	25450201	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:25450201C>T	ENST00000329474.6	+	6	815	c.447C>T	c.(445-447)acC>acT	p.T149T	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	149					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACAGCCAGACCGTGGCTGAGC	0.498000													3	24					0	0	0.150653	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233323	125233323	+	RNA	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:125233323T>C	ENST00000439075.1	-	0	1422					NR_026876.1																						AAGGCTAACATTGATAGACTG	0.368000													7	18					0	0	0.029380	0	0
TRIM60	166655	broad.mit.edu	37	4	165961707	165961707	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:165961707G>A	ENST00000512596.1	+	3	699	c.483G>A	c.(481-483)gtG>gtA	p.V161V	TRIM60_ENST00000341062.5_Silent_p.V161V|TRIM60_ENST00000508504.1_Silent_p.V161V	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	161						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTGAAAAAGTGATAATTCTGC	0.358000													10	15					0	0	0.069234	0	0
SORCS3	22986	broad.mit.edu	37	10	106927100	106927100	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:106927100C>A	ENST00000369701.3	+	13	2121	c.1894C>A	c.(1894-1896)Cat>Aat	p.H632N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	632						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCAGTCAGGCATTTGTGGTA	0.463000													23	23					8.04996e-18	1.17705e-17	0.234183	1	0
SNX19	399979	broad.mit.edu	37	11	130785334	130785334	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:130785334C>A	ENST00000265909.4	-	1	1070	c.501G>T	c.(499-501)caG>caT	p.Q167H	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.Q167H	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	167	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GAATGTAGCTCTGCAGGTGAC	0.577000													7	30					1.12685e-05	1.26771e-05	0.047766	1	0
PRKD3	23683	broad.mit.edu	37	2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:37516516C>A	ENST00000379066.1	-	5	1462	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S			O94806	KPCD3_HUMAN	protein kinase D3	234					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418000													4	75					1.23904e-05	1.38794e-05	0.184627	1	0
EFCAB6	64800	broad.mit.edu	37	22	43950875	43950875	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr22:43950875C>T	ENST00000262726.7	-	27	3775	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	EFCAB6_ENST00000396231.2_Silent_p.V1022V|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AATGGGAAGTCACTGCTTTGT	0.537000													34	4					0	0	0.183431	0	0
TMEM135	65084	broad.mit.edu	37	11	87013349	87013349	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:87013349G>C	ENST00000340353.7	+	7	699	c.497G>C	c.(496-498)gGg>gCg	p.G166A	TMEM135_ENST00000305494.5_Missense_Mutation_p.G188A|TMEM135_ENST00000532959.1_Missense_Mutation_p.G59A|TMEM135_ENST00000535167.1_Missense_Mutation_p.G49A	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	188						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCATTGTAGGGAAGGAAGAA	0.353000													50	80					0	0	0.139131	0	0
MAS1L	116511	broad.mit.edu	37	6	29455361	29455361	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:29455361G>A	ENST00000377127.3	-	1	377	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	107						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ACCATGTAGGGATTCGTGGCC	0.532000													16	33					0	0	0.175082	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	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	114					0	0	0.150653	0	0
SLC6A12	6539	broad.mit.edu	37	12	301674	301674	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:301674G>T	ENST00000428720.1	-	15	2414	c.1671C>A	c.(1669-1671)acC>acA	p.T557T	SLC6A12_ENST00000359674.4_Silent_p.T557T|SLC6A12_ENST00000424061.2_Silent_p.T557T|SLC6A12_ENST00000397296.2_Silent_p.T557T|SLC6A12_ENST00000536824.1_Silent_p.T557T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	557					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCTTCAGGAGGGTGATGACGA	0.567000													14	35					2.32078e-09	2.92621e-09	0.132662	1	0
SERTAD3	29946	broad.mit.edu	37	19	40947447	40947447	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:40947447A>T	ENST00000322354.3	-	2	1037	c.541T>A	c.(541-543)Tgg>Agg	p.W181R	SERTAD3_ENST00000392028.4_Missense_Mutation_p.W181R	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	181					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCACTCCCAAGAACCTGGG	0.522000													41	64					0	0	0.111260	0	0
ZNF85	7639	broad.mit.edu	37	19	21132839	21132839	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:21132839G>C	ENST00000601023.1	+	2	1988	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	ZNF85_ENST00000345030.6_Missense_Mutation_p.E474Q|ZNF85_ENST00000328178.8_Missense_Mutation_p.E507Q			Q03923	ZNF85_HUMAN	zinc finger protein 85	507						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCATACTGGAGAGAAACCATA	0.358000													4	26					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	216595416	216595416	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:216595416C>A	ENST00000366943.2	-	2	649	c.263G>T	c.(262-264)tGc>tTc	p.C88F	USH2A_ENST00000307340.3_Missense_Mutation_p.C88F|USH2A_ENST00000366942.3_Missense_Mutation_p.C88F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	88					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGTATGGGCAATCCTGAAT	0.493000										HNSCC(13;0.011)			14	130					4.93089e-13	6.68552e-13	0.119110	1	0
TPP2	7174	broad.mit.edu	37	13	103317145	103317145	+	Splice_Site	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:103317145G>T	ENST00000376052.3	+	27	3257	c.3240_splice	c.e27-1	p.E1081_splice	TPP2_ENST00000376065.4_Splice_Site_p.E1068_splice|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1068					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTCTCCAGGAACGAATGAA	0.348000													8	30					0.000157383	0.000170799	0.038147	1	0
PTPRC	5788	broad.mit.edu	37	1	198675924	198675924	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:198675924A>T	ENST00000367376.2	+	9	912	c.741A>T	c.(739-741)acA>acT	p.T247T	PTPRC_ENST00000442510.2_Silent_p.T249T|PTPRC_ENST00000348564.6_Silent_p.T88T|PTPRC_ENST00000594404.1_Silent_p.T86T|PTPRC_ENST00000352140.3_Silent_p.T199T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	247					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATTATTTACAGCAAAGCTAA	0.303000													21	227					0	0	0.234183	0	0
ABCB5	340273	broad.mit.edu	37	7	20689653	20689653	+	Translation_Start_Site	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:20689653A>T	ENST00000258738.6	+	0	347				ABCB5_ENST00000406935.1_De_novo_Start_OutOfFrame|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_De_novo_Start_OutOfFrame|ABCB5_ENST00000404938.2_Missense_Mutation_p.K405N	NM_178559.5	NP_848654.3	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATTCTGAAAGGTCTGAATC	0.393000													4	42					0	0	0.150653	0	0
GCKR	2646	broad.mit.edu	37	2	27746241	27746241	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:27746241C>A	ENST00000264717.2	+	19	1876	c.1813C>A	c.(1813-1815)Ctt>Att	p.L605I	GCKR_ENST00000424318.2_Missense_Mutation_p.L415I	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	605					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CAGGAGTGCTCTTGCTGGGCC	0.607000													22	30					1.87028e-06	2.18409e-06	0.234183	1	0
PREX1	57580	broad.mit.edu	37	20	47269935	47269935	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:47269935G>T	ENST00000396220.1	-	20	2332	c.2310C>A	c.(2308-2310)caC>caA	p.H770Q	PREX1_ENST00000371941.3_Missense_Mutation_p.H770Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	770					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGCCTGGAAGTGCTCCAGGA	0.607000													8	118					1.06961e-07	1.28354e-07	0.038147	1	0
EBF3	253738	broad.mit.edu	37	10	131761676	131761676	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:131761676C>A	ENST00000368648.3	-	2	318	c.246G>T	c.(244-246)gtG>gtT	p.V82V	EBF3_ENST00000355311.5_Silent_p.V82V	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	82					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTTCAATCTCCACCGGCTGCC	0.557000													3	11					0.115264	0.117745	0.115264	1	0
SYCE2	256126	broad.mit.edu	37	19	13011420	13011420	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:13011420T>C	ENST00000293695.7	-	4	367	c.349A>G	c.(349-351)Att>Gtt	p.I117V	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	117					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCATTATAAATCTGATAGATC	0.398000													39	131					0	0	0.225048	0	0
USP6	9098	broad.mit.edu	37	17	5042785	5042785	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:5042785T>A	ENST00000574788.1	+	22	3544	c.1314T>A	c.(1312-1314)gcT>gcA	p.A438A	USP6_ENST00000332776.4_Silent_p.A438A|USP6_ENST00000304328.5_Silent_p.A121A|USP6_ENST00000250066.6_Silent_p.A438A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	438					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGCCCTGGCTCAGGGAGGAC	0.632000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	17					0	0	0.184627	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61957767	61957767	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:61957767C>T	ENST00000306238.3	+	1	80	c.11C>T	c.(10-12)tCg>tTg	p.S4L		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	4						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						ATGAGGCTGTCGGTGTGTCTC	0.587000													16	64					0	0	0.234183	0	0
FLG	2312	broad.mit.edu	37	1	152279610	152279610	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:152279610A>G	ENST00000368799.1	-	3	7787	c.7752T>C	c.(7750-7752)tcT>tcC	p.S2584S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2584	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCAGACCCAGACCACCTCT	0.557000									Ichthyosis				18	148					0	0	0.091800	0	0
FAM47A	158724	broad.mit.edu	37	X	34150393	34150393	+	Translation_Start_Site	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:34150393C>T	ENST00000346193.3	-	1	54	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	1										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTGGTCCCCCATGGTGGCCC	0.642000													3	9					0	0	0.038147	0	0
LRRC7	57554	broad.mit.edu	37	1	70477610	70477610	+	Splice_Site	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:70477610G>A	ENST00000310961.5	+	13	1453		c.e13+1		LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCCAGAGAAGTGAGAAATAA	0.338000													7	15					0	0	0.038147	0	0
LCT	3938	broad.mit.edu	37	2	136566189	136566189	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:136566189G>T	ENST00000264162.2	-	8	3738	c.3728C>A	c.(3727-3729)aCg>aAg	p.T1243K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1243	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCATTGCCGTGGAAGGCCA	0.562000													23	38					1.22574e-08	1.5162e-08	0.069288	1	0
GRXCR1	389207	broad.mit.edu	37	4	42965033	42965033	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:42965033T>G	ENST00000399770.2	+	2	509	c.509T>G	c.(508-510)tTt>tGt	p.F170C		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	170	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CGCGTAAAATTTGAAGAGAAA	0.433000													8	415					0	0	0.058154	0	0
POLA1	5422	broad.mit.edu	37	X	24844714	24844714	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:24844714G>T	ENST00000379068.3	+	32	3775	c.3732G>T	c.(3730-3732)tgG>tgT	p.W1244C	POLA1_ENST00000379059.3_Missense_Mutation_p.W1238C			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1238					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTGCAACGTGGTTGGGTAAGT	0.507000													3	13					0.014758	0.0153154	0.184627	1	0
FAM153A	285596	broad.mit.edu	37	5	177156557	177156557	+	Splice_Site	SNP	C	C	A	rs147363353		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:177156557C>A	ENST00000440605.3	-	16	915		c.e16-1		FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A											kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGGTCACCTAGGAAACAG	0.542000													22	72					2.12542e-12	2.84479e-12	0.116897	1	0
RNF103	7844	broad.mit.edu	37	2	86847581	86847581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:86847581C>A	ENST00000237455.4	-	2	1206	c.238G>T	c.(238-240)Gag>Tag	p.E80*	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Nonsense_Mutation_p.E2*|CHMP3_ENST00000439940.2_Nonsense_Mutation_p.E2*	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	80					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AGCTCACCCTCCATCAAGTCA	0.378000													8	33					1.06961e-07	1.28354e-07	0.038147	1	0
KIF5A	3798	broad.mit.edu	37	12	57962848	57962848	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:57962848A>T	ENST00000455537.2	+	9	1091	c.817A>T	c.(817-819)Act>Tct	p.T273S	KIF5A_ENST00000286452.5_Missense_Mutation_p.T184S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	273	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGCTGAGGGCACTGTGAGTGA	0.562000													9	21					0	0	0.069234	0	0
ZNF561	93134	broad.mit.edu	37	19	9721688	9721688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:9721688C>A	ENST00000302851.3	-	6	1012	c.649G>T	c.(649-651)Gga>Tga	p.G217*	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Nonsense_Mutation_p.G81*|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Nonsense_Mutation_p.G148*	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GTGTGGATTCCCATATGATTA	0.398000													24	52					3.28513e-13	4.46572e-13	0.091800	1	0
HMCN1	83872	broad.mit.edu	37	1	186062355	186062355	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:186062355G>C	ENST00000271588.4	+	65	10206	c.9977G>C	c.(9976-9978)gGa>gCa	p.G3326A	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3326A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3326	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCCCGCTGGAGAAGAAGAC	0.403000													20	117					0	0	0.189662	0	0
DKK2	27123	broad.mit.edu	37	4	107956733	107956733	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:107956733G>T	ENST00000285311.3	-	1	721	c.16C>A	c.(16-18)Cgg>Agg	p.R6R	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	6					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCCTTGCTCCGCATCAACGCG	0.647000													14	72					9.16793e-09	1.13944e-08	0.160694	1	0
CDH23	64072	broad.mit.edu	37	10	73405688	73405688	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:73405688G>A	ENST00000224721.6	+	12	1261	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	CDH23_ENST00000398809.4_Missense_Mutation_p.R414Q|CDH23_ENST00000398842.3_Missense_Mutation_p.R414Q|CDH23_ENST00000299366.7_Missense_Mutation_p.R459Q|CDH23_ENST00000461841.3_Missense_Mutation_p.R459Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	414	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATTCGTATTCGGGTGGCCATC	0.577000													4	39					0	0	0.184627	0	0
VBP1	7411	broad.mit.edu	37	X	154448519	154448519	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:154448519G>A	ENST00000286428.5	+	2	270	c.153G>A	c.(151-153)aaG>aaA	p.K51K	VBP1_ENST00000535916.1_Silent_p.K46K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	51					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTATTAAAGAAGCTGGATG	0.303000													5	31					0	0	0.029380	0	0
MST1L	11223	broad.mit.edu	37	1	17085006	17085006	+	RNA	SNP	C	C	T	rs147678325	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:17085006C>T	ENST00000455405.2	-	0	182																											CGGATGGCCCCCAGCCACGCG	0.607000													7	53					0	0	0.038147	0	0
FARSB	10056	broad.mit.edu	37	2	223507723	223507723	+	Splice_Site	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:223507723G>A	ENST00000281828.6	-	3	379	c.114_splice	c.e3-1	p.T39_splice	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	39					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CTTCTCAGATGTCTAAAACAA	0.313000													6	16					0	0	0.217242	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366052	7366052	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:7366052C>T	ENST00000311403.4	-	4	2588	c.2249G>A	c.(2248-2250)gGg>gAg	p.G750E	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G750E	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GTGGGAGCCCCCACCGTGGGC	0.706000													22	27					0	0	0.099896	0	0
NDC1	55706	broad.mit.edu	37	1	54262454	54262454	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:54262454T>A	ENST00000371429.3	-	13	2090	c.1492A>T	c.(1492-1494)Aat>Tat	p.N498Y	NDC1_ENST00000537333.1_Missense_Mutation_p.N163Y|NDC1_ENST00000540001.1_Missense_Mutation_p.N498Y|NDC1_ENST00000234725.8_Missense_Mutation_p.N383Y	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		GGAGAAGGATTAGAAAATTCA	0.353000													28	22					0	0	0.116897	0	0
MS4A7	58475	broad.mit.edu	37	11	60161284	60161284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:60161284C>T	ENST00000358246.1	+	6	731	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	MS4A7_ENST00000300184.3_Nonsense_Mutation_p.Q225*|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Nonsense_Mutation_p.Q180*|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	225						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GACCCAGTCACAAGATCATAT	0.348000													25	121					0	0	0.091800	0	0
DENND2A	27147	broad.mit.edu	37	7	140301849	140301849	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:140301849C>T	ENST00000275884.6	-	2	766	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	DENND2A_ENST00000537639.1_Missense_Mutation_p.V117I|DENND2A_ENST00000496613.1_Missense_Mutation_p.V117I|DENND2A_ENST00000492720.1_Missense_Mutation_p.V117I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	117										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTCCCCCGACGTTCACTGCT	0.577000													21	162					0	0	0.076483	0	0
RTF1	23168	broad.mit.edu	37	15	41762554	41762554	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:41762554G>A	ENST00000389629.4	+	7	1001	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	330	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAGTCAGACCGCTCATCACGA	0.448000													8	175					0	0	0.047766	0	0
XAF1	54739	broad.mit.edu	37	17	6674154	6674154	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:6674154A>G	ENST00000361842.3	+	6	939	c.700A>G	c.(700-702)Agc>Ggc	p.S234G	XAF1_ENST00000346752.4_Missense_Mutation_p.S215G|XAF1_ENST00000441631.1_Missense_Mutation_p.S234G	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	234					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGCACCAAGAAGCAAAAACAA	0.423000													12	58					0	0	0.080935	0	0
OR51G1	79324	broad.mit.edu	37	11	4944782	4944782	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:4944782A>C	ENST00000321961.2	-	1	855	c.788T>G	c.(787-789)gTg>gGg	p.V263G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGCGATGCACAAGAGACAA	0.517000													22	67					0	0	0.083992	0	0
IL17RC	84818	broad.mit.edu	37	3	9959148	9959148	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:9959148A>T	ENST00000295981.3	+	1	367	c.149A>T	c.(148-150)cAg>cTg	p.Q50L	IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	50						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCAGGGTTCAGTTTTTGGCT	0.577000													5	21					0	0	0.184627	0	0
GJC3	349149	broad.mit.edu	37	7	99526682	99526682	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:99526682T>C	ENST00000312891.2	-	1	561	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	188						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAAATGGTCTTCTCAGAGGGG	0.507000													9	294					0	0	0.047766	0	0
MROH5	389690	broad.mit.edu	37	8	142505516	142505516	+	RNA	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:142505516C>A	ENST00000430863.1	-	0	410					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TCTTGATCTTCTTGATGATGT	0.527000													11	75					0.00010058	0.000109838	0.093190	1	0
DOCK11	139818	broad.mit.edu	37	X	117707971	117707971	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:117707971A>G	ENST00000276204.6	+	12	1453	c.1379A>G	c.(1378-1380)tAc>tGc	p.Y460C	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y460C			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	460					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGTTACGCTACATACAACAG	0.428000													3	50					0	0	0.150653	0	0
CCDC136	64753	broad.mit.edu	37	7	128432408	128432408	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:128432408T>A	ENST00000464832.1	+	2	137	c.93T>A	c.(91-93)gcT>gcA	p.A31A	CCDC136_ENST00000487361.1_5'UTR|CCDC136_ENST00000378685.4_Silent_p.A31A|CCDC136_ENST00000297788.4_5'UTR			Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	0	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCTATGAGGCTTCCGAGGGCT	0.622000													5	16					0	0	0.217242	0	0
SOX11	6664	broad.mit.edu	37	2	5833048	5833048	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:5833048G>A	ENST00000322002.3	+	1	250	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	65					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCGAACGCAGGAAGATCATGG	0.587000													5	22					0	0	0.184627	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456506	106456506	+	Splice_Site	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:106456506A>T	ENST00000407775.2	+	3	449		c.e3-1		ZFPM2_ENST00000520492.1_Splice_Site	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2						blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGTGTTTTCCAGGTGATGATG	0.458000													4	56					0	0	0.150653	0	0
CDK17	5128	broad.mit.edu	37	12	96694099	96694099	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:96694099A>G	ENST00000261211.3	-	6	1186	c.583T>C	c.(583-585)Ttg>Ctg	p.L195L	CDK17_ENST00000543119.2_Silent_p.L195L|CDK17_ENST00000542666.1_Silent_p.L142L|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	195	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AGCTTTTCCAATTTGATGTAG	0.294000													8	33					0	0	0.058154	0	0
MAP4K3	8491	broad.mit.edu	37	2	39514070	39514070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:39514070G>A	ENST00000263881.3	-	21	1834	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.R483*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.R57*|MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.R420*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	504					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GAGCCATCTCGTTCACCATTT	0.318000													6	43					0	0	0.038147	0	0
SULF2	55959	broad.mit.edu	37	20	46295154	46295154	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:46295154C>G	ENST00000359930.4	-	12	2506	c.1655G>C	c.(1654-1656)gGc>gCc	p.G552A	SULF2_ENST00000467815.1_Missense_Mutation_p.G552A|SULF2_ENST00000484875.1_Missense_Mutation_p.G552A|SULF2_ENST00000361612.4_Missense_Mutation_p.G552A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	552					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATCACCCAGGCCTACGTGGTA	0.632000													3	13					0	0	0.184627	0	0
ITGAL	3683	broad.mit.edu	37	16	30490502	30490502	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:30490502A>C	ENST00000356798.6	+	5	598	c.418A>C	c.(418-420)Atg>Ctg	p.M140L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000454514.2_Missense_Mutation_p.M140L|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	140					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCAGGGTCCCATGCTGCAGGG	0.552000													18	75					0	0	0.219247	0	0
ABCA3	21	broad.mit.edu	37	16	2334331	2334331	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:2334331G>A	ENST00000301732.5	-	25	4511	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	ABCA3_ENST00000382381.3_Missense_Mutation_p.R1213W	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1271					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGTACCTCCGCGTCTCGTAG	0.592000													5	23					0	0	0.184627	0	0
NALCN	259232	broad.mit.edu	37	13	102029288	102029288	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:102029288G>A	ENST00000251127.6	-	5	576	c.495C>T	c.(493-495)acC>acT	p.T165T	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.T165T|NALCN_ENST00000376196.3_Silent_p.T165T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	165						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTAATTCTGGTCCTTGGCA	0.373000													5	111					0	0	0.184627	0	0
AP1M2	10053	broad.mit.edu	37	19	10692527	10692527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:10692527C>A	ENST00000590923.1	-	4	378	c.295G>T	c.(295-297)Gag>Tag	p.E99*	AP1M2_ENST00000250244.6_Nonsense_Mutation_p.E99*			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	99					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTCTCCTCCTCCAGCTCCTTG	0.542000													6	22					0.00116845	0.00123218	0.217242	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654973	31654973	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:31654973A>C	ENST00000340345.4	-	1	303	c.278T>G	c.(277-279)gTg>gGg	p.V93G		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	93						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GTTGCAGGGCACAGAGGAGTT	0.572000													34	32					0	0	0.203993	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008697	88008697	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:88008697C>A	ENST00000276127.4	+	3	541	c.282C>A	c.(280-282)acC>acA	p.T94T	CPXCR1_ENST00000373111.1_Silent_p.T94T	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	94						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TACTTCAGACCCCCATTCCCA	0.413000													10	54					1.76689e-08	2.15495e-08	0.058154	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590654	140590654	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:140590654C>T	ENST00000239450.2	+	1	2364	c.2175C>T	c.(2173-2175)tgC>tgT	p.C725C	PCDHB12_ENST00000541609.1_Silent_p.C388C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		725					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTCGCTGCTCGGTGCCTG	0.657000													52	21					0	0	0.139131	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11253	11253	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrM:11253T>C	ENST00000361381.2	+	1	494	c.494T>C	c.(493-495)aTt>aCt	p.165_165insT						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CATCGCACTAATTTACACTCA	0.473000													14	535					0	0	0.119110	0	0
CCL28	56477	broad.mit.edu	37	5	43381991	43381991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:43381991C>A	ENST00000361115.4	-	3	429	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	CCL28_ENST00000513525.1_Nonsense_Mutation_p.E72*	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	119					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						CCGTATGTTTCGTGTTTCCCC	0.418000													44	292					6.17242e-35	9.67568e-35	0.139131	1	0
UVSSA	57654	broad.mit.edu	37	4	1345538	1345538	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:1345538A>T	ENST00000389851.4	+	4	912	c.465A>T	c.(463-465)gcA>gcT	p.A155A	UVSSA_ENST00000511216.1_Silent_p.A155A|UVSSA_ENST00000507531.1_Silent_p.A155A	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	155																	GGAGTCTGGCAGAAAGGAAGA	0.502000											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	8					0	0	0.029380	0	0
NLRP10	338322	broad.mit.edu	37	11	7981511	7981511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:7981511C>A	ENST00000328600.2	-	2	1809	c.1648G>T	c.(1648-1650)Gaa>Taa	p.E550*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	550							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCATCTGTTCTTTAAAATGC	0.393000													25	20					5.77227e-19	8.53577e-19	0.134883	1	0
OR2F1	26211	broad.mit.edu	37	7	143657464	143657464	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:143657464C>A	ENST00000392899.1	+	1	438	c.401C>A	c.(400-402)gCc>gAc	p.A134D		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CGATACTCGGCCATCATGCAT	0.552000													32	142					7.11191e-15	9.97961e-15	0.173368	1	0
DCDC2	51473	broad.mit.edu	37	6	24178641	24178641	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:24178641C>T	ENST00000378454.3	-	9	1544	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E168K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	415					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TGCTGCAGCTCCTCACCATTC	0.498000													58	95					0	0	0.139131	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237667	26237667	+	RNA	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:26237667C>G	ENST00000519902.1	-	0	2281																											AATCAAAGTTCTAGCAGACAT	0.443000													7	22					0	0	0.029380	0	0
TLR1	7096	broad.mit.edu	37	4	38799909	38799909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:38799909C>A	ENST00000308979.2	-	4	817	c.544G>T	c.(544-546)Gag>Tag	p.E182*	TLR1_ENST00000502213.2_Nonsense_Mutation_p.E182*	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	182				E -> G (in Ref. 3; CAB43364).	cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGAAGGCCCTCAGGGTCTTCT	0.413000													24	35					6.44725e-10	8.24869e-10	0.069288	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	114					0	0	0.150653	0	0
GHITM	27069	broad.mit.edu	37	10	85901331	85901331	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:85901331C>T	ENST00000372134.3	+	2	268	c.75C>T	c.(73-75)tcC>tcT	p.S25S		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	25					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCAAGGCCTCCCCTGTTGTGA	0.468000													5	64					0	0	0.184627	0	0
ZAN	7455	broad.mit.edu	37	7	100344279	100344279	+	RNA	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:100344279G>C	ENST00000542585.1	+	0	1033				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATCCTCCGGGGCCAGTCTC	0.557000													20	35					0	0	0.091800	0	0
NEK10	152110	broad.mit.edu	37	3	27387648	27387648	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:27387648G>A	ENST00000429845.2	-	5	554	c.192C>T	c.(190-192)atC>atT	p.I64I	NEK10_ENST00000341435.5_Silent_p.I64I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	64							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CACCCGCCCTGATGGCGGGCT	0.468000													15	77					0	0	0.116897	0	0
ATP2B2	491	broad.mit.edu	37	3	10417176	10417176	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:10417176C>T	ENST00000397077.1	-	10	1794	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	ATP2B2_ENST00000343816.4_Missense_Mutation_p.V438M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V452M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V452M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V407M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	452					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGGCGACCACCAGCACCGTC	0.612000													7	5					0	0	0.029380	0	0
RYR3	6263	broad.mit.edu	37	15	33925214	33925214	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:33925214C>A	ENST00000389232.4	+	24	3002	c.2932C>A	c.(2932-2934)Cct>Act	p.P978T	RYR3_ENST00000415757.3_Missense_Mutation_p.P978T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	978	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGTTACCTCCTCAAGAAAT	0.383000													24	70					3.83957e-06	4.3953e-06	0.076483	1	0
PDP1	54704	broad.mit.edu	37	8	94935646	94935646	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:94935646G>T	ENST00000396200.3	+	3	1710	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	PDP1_ENST00000517764.1_Silent_p.V453V|PDP1_ENST00000520728.1_Silent_p.V453V|PDP1_ENST00000297598.4_Silent_p.V453V	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	453					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCTACAAGGTGACTCTGGGAC	0.498000													37	79					1.15505e-17	1.67948e-17	0.111260	1	0
CEP192	55125	broad.mit.edu	37	18	13049233	13049233	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:13049233A>G	ENST00000506447.1	+	16	2523	c.2443A>G	c.(2443-2445)Aaa>Gaa	p.K815E	CEP192_ENST00000325971.8_Missense_Mutation_p.K219E|CEP192_ENST00000430049.2_Missense_Mutation_p.K340E	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	410										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCTTTGCCCAAAGAACAAAC	0.378000													13	75					0	0	0.132662	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480980	123480980	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:123480980A>G	ENST00000529750.1	+	13	1751	c.1424A>G	c.(1423-1425)cAt>cGt	p.H475R	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.H475R|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.H166R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.H482R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	475						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GTGCCCTACCATGACTACTTC	0.562000													5	80					0	0	0.217242	0	0
EPHB2	2048	broad.mit.edu	37	1	23239017	23239017	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:23239017A>G	ENST00000400191.3	+	15	2795	c.2777A>G	c.(2776-2778)aAg>aGg	p.K926R	EPHB2_ENST00000374627.1_Missense_Mutation_p.K921R|EPHB2_ENST00000374630.3_Missense_Mutation_p.K926R|EPHB2_ENST00000374632.3_Missense_Mutation_p.K927R	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	926	SAM.				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)		GAGGCCATCAAGATGGGGCAG	0.592000													6	47					0	0	0.029380	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380844	28380844	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:28380844A>T	ENST00000394835.3	+	10	2064	c.1872A>T	c.(1870-1872)gcA>gcT	p.A624A	EFCAB5_ENST00000320856.5_Silent_p.A624A|EFCAB5_ENST00000378738.3_Silent_p.A624A|EFCAB5_ENST00000541045.1_Silent_p.A281A|EFCAB5_ENST00000536908.2_Silent_p.A568A|EFCAB5_ENST00000394832.2_Silent_p.A624A	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	624							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTCAGTAGCAGAACAAGGAT	0.453000													55	248					0	0	0.139131	0	0
XIRP2	129446	broad.mit.edu	37	2	168103121	168103121	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:168103121G>A	ENST00000409195.1	+	9	5308	c.5219G>A	c.(5218-5220)aGa>aAa	p.R1740K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1518K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1740K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1565					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCTCTGAGAGAGGAAATGTT	0.368000													9	146					0	0	0.047766	0	0
ZNF561	93134	broad.mit.edu	37	19	9721689	9721689	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:9721689C>A	ENST00000302851.3	-	6	1011	c.648G>T	c.(646-648)atG>atT	p.M216I	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.M80I|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.M147I	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TGTGGATTCCCATATGATTAT	0.403000													26	51					4.87955e-14	6.8105e-14	0.108266	1	0
TSPYL2	64061	broad.mit.edu	37	X	53114877	53114877	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:53114877G>A	ENST00000375442.4	+	6	1435	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	435					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TGCAGTGGAAGACATTTTCAG	0.473000													11	40					0	0	0.080935	0	0
SATB1	6304	broad.mit.edu	37	3	18390907	18390907	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:18390907C>A	ENST00000338745.6	-	11	3781	c.2047G>T	c.(2047-2049)Gac>Tac	p.D683Y	SATB1_ENST00000454909.2_Missense_Mutation_p.D683Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D715Y|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	683					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGGGAAGGTCGAGCTGGGCA	0.498000													11	139					3.86212e-05	4.24427e-05	0.069234	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482269	142482269	+	RNA	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:142482269G>T	ENST00000603901.1	+	0	649					NR_001296.3																						TGTCTCCTGGGGCTATGGCTG	0.522000													16	93					3.52763e-06	4.04709e-06	0.160694	1	0
MMP2	4313	broad.mit.edu	37	16	55525795	55525795	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:55525795G>A	ENST00000219070.4	+	8	1772	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	MMP2_ENST00000570308.1_Missense_Mutation_p.M345I|MMP2_ENST00000437642.2_Missense_Mutation_p.M371I|MMP2_ENST00000543485.1_Missense_Mutation_p.M345I	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	421	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGGCCCTGATGGCACCCATTT	0.612000													14	91					0	0	0.105934	0	0
C2CD2	25966	broad.mit.edu	37	21	43327262	43327262	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:43327262T>C	ENST00000380486.3	-	10	1398	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	C2CD2_ENST00000329623.7_Missense_Mutation_p.E231G	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	386						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TTCACCAGGTTCCATGTAAGA	0.498000													7	31					0	0	0.029380	0	0
DOCK2	1794	broad.mit.edu	37	5	169469081	169469081	+	Missense_Mutation	SNP	G	G	A	rs145262338		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:169469081G>A	ENST00000256935.8	+	38	3901	c.3821G>A	c.(3820-3822)cGg>cAg	p.R1274Q	DOCK2_ENST00000540750.1_Missense_Mutation_p.R335Q|DOCK2_ENST00000520908.1_Missense_Mutation_p.R766Q|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1274	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGACACACCGGCAGCTGAAG	0.587000													4	40					0	0	0.150653	0	0
MYO1F	4542	broad.mit.edu	37	19	8590441	8590441	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:8590441T>A	ENST00000338257.8	-	25	3043	c.2776A>T	c.(2776-2778)Acg>Tcg	p.T926S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	926						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCCTTCCGCGTAGGCTCTGAA	0.632000													4	16					0	0	0.150653	0	0
NLRP8	126205	broad.mit.edu	37	19	56466894	56466894	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:56466894G>A	ENST00000291971.3	+	3	1541	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M490I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	490	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTTGGCATGAGTATTCTTC	0.483000													26	67					0	0	0.099896	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460730	66460730	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:66460730T>A	ENST00000533211.1	-	24	5112	c.4781A>T	c.(4780-4782)tAc>tTc	p.Y1594F	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1594F|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1594F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1594					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCATCGCGGTAGAACTGCTG	0.632000													16	64					0	0	0.204396	0	0
NARS	4677	broad.mit.edu	37	18	55282959	55282959	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:55282959C>T	ENST00000256854.5	-	4	711	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	86					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	AAACTATCTTCTGCCTAATTT	0.368000													23	52					0	0	0.099896	0	0
KRT75	9119	broad.mit.edu	37	12	52824463	52824463	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:52824463G>T	ENST00000252245.5	-	5	1117	c.897C>A	c.(895-897)gtC>gtA	p.V299V		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	299	Linker 12.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATGTGTCACCGACCTGGGTCT	0.512000													13	49					1.5842e-08	1.95497e-08	0.105934	1	0
PAPPA	5069	broad.mit.edu	37	9	118950437	118950437	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:118950437T>A	ENST00000328252.3	+	2	1789	c.1420T>A	c.(1420-1422)Tgt>Agt	p.C474S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	474	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGGAGAGTGCTGTGACCCTGA	0.522000													18	31					0	0	0.219247	0	0
KIAA1598	57698	broad.mit.edu	37	10	118719676	118719676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:118719676G>A	ENST00000355371.4	-	4	735	c.238C>T	c.(238-240)Cga>Tga	p.R80*	KIAA1598_ENST00000392901.4_Nonsense_Mutation_p.R20*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.R80*|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.R80*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	80					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCACTTTCTCGACAAGTCTTC	0.378000													4	13					0	0	0.150653	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231194	42231194	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:42231194C>T	ENST00000221992.6	+	9	2181	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	CEACAM5_ENST00000405816.1_Silent_p.V689V|CEACAM5_ENST00000398599.4_Silent_p.V688V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	689				V -> A (in Ref. 3; AAA62835).		anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGGCCACTGTCGGCATCATGA	0.473000													27	555					0	0	0.125774	0	0
ZNF716	441234	broad.mit.edu	37	7	57528449	57528449	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:57528449C>A	ENST00000420713.1	+	4	394	c.282C>A	c.(280-282)acC>acA	p.T94T		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTCATTTCACCCAAGACCTTC	0.313000													5	63					5.9392e-07	7.01417e-07	0.217242	1	0
PALLD	23022	broad.mit.edu	37	4	169589483	169589483	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:169589483G>C	ENST00000261509.6	+	3	1262	c.1051G>C	c.(1051-1053)Ggc>Cgc	p.G351R	PALLD_ENST00000505667.1_Missense_Mutation_p.G351R|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.G228R	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	351	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAATCCCAGCGGCTCAGACAC	0.522000									Pancreatic Cancer, Familial Clustering of				33	66					0	0	0.139131	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333438	227333438	+	Splice_Site	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:227333438C>G	ENST00000366769.3	-	8	2186	c.894_splice	c.e8-1	p.E299_splice	CDC42BPA_ENST00000366764.2_Splice_Site_p.E299_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.E299_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.E299_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.E299_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.E299_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.E299_splice	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	299	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E299Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGAAACCTCTCCTAAACAGAG	0.313000													27	75					0	0	0.125774	0	0
FIP1L1	81608	broad.mit.edu	37	4	54319108	54319108	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:54319108G>A	ENST00000337488.6	+	16	1501	c.1307G>A	c.(1306-1308)gGt>gAt	p.G436D	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G362D|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G430D	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	436					mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CATCTTCCTGGTTCTGCTCCT	0.423000			T	PDGFRA	idiopathic hypereosinophilic syndrome								33	109					0	0	0.225048	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179529113	179529113	+	Missense_Mutation	SNP	C	C	T	rs139061980		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:179529113C>T	ENST00000393371.2	-	12	1630	c.1334G>A	c.(1333-1335)aGc>aAc	p.S445N	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S294N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S445N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	445	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCTCTGGGCTCTCACTTTC	0.428000													9	23					0	0	0.069234	0	0
SPTA1	6708	broad.mit.edu	37	1	158584094	158584094	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:158584094T>A	ENST00000368148.3	-	49	6971	c.6791A>T	c.(6790-6792)gAc>gTc	p.D2264V	SPTA1_ENST00000368147.3_Missense_Mutation_p.D2261V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2264					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTTGATGTCCCTGAAAGA	0.328000													9	85					0	0	0.047766	0	0
CMTR2	55783	broad.mit.edu	37	16	71318473	71318473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:71318473C>A	ENST00000338099.5	-	3	1687	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E451*			Q8IYT2	FTSJ1_HUMAN		451						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAAGGGCTTCTAGCATCTTC	0.343000													17	22					2.48551e-13	3.38756e-13	0.160694	1	0
UBBP4	23666	broad.mit.edu	37	17	21731049	21731049	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:21731049G>T	ENST00000584755.1	+	2	748	c.351G>T	c.(349-351)caG>caT	p.Q117H	UBBP4_ENST00000578713.1_Missense_Mutation_p.Q117H|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCGACCAGCAGAGGCTCATCT	0.547000													29	39					1.04594e-18	1.54232e-18	0.235728	1	0
GPR87	53836	broad.mit.edu	37	3	151012910	151012910	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:151012910T>A	ENST00000260843.4	-	3	588	c.124A>T	c.(124-126)Aca>Tca	p.T42S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	42						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGACAATTGTGTCAAATTCA	0.453000													10	88					0	0	0.069234	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808302	1808302	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:1808302G>T	ENST00000518288.1	+	5	668	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A169S|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.A169S|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A145S|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A145S|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A169S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	169					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCTGCTGCCCGCCTACTCCAG	0.652000													11	23					7.93312e-07	9.32678e-07	0.119110	1	0
MXRA7	439921	broad.mit.edu	37	17	74684255	74684255	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:74684255C>T	ENST00000355797.3	-	2	354	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MXRA7_ENST00000449428.2_Missense_Mutation_p.E116K|MXRA7_ENST00000588114.1_5'UTR|MXRA7_ENST00000592148.1_Missense_Mutation_p.E159K|MXRA7_ENST00000585519.1_5'UTR|MXRA7_ENST00000375036.2_Missense_Mutation_p.E116K|MXRA7_ENST00000589082.1_5'UTR	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	116						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCTGCTCCTCTTCCTGCAAG	0.622000													12	29					0	0	0.105934	0	0
OR1L4	254973	broad.mit.edu	37	9	125486742	125486742	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:125486742G>A	ENST00000259466.1	+	1	474	c.474G>A	c.(472-474)ctG>ctA	p.L158L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACATTCCCTGTTCCGCGTGC	0.488000													7	203					0	0	0.116897	0	0
OR13C8	138802	broad.mit.edu	37	9	107331963	107331963	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:107331963A>T	ENST00000335040.1	+	1	515	c.515A>T	c.(514-516)aAt>aTt	p.N172I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTGCTAATAATGTCATTAAA	0.443000													11	74					0	0	0.105934	0	0
SAMD15	161394	broad.mit.edu	37	14	77844783	77844783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:77844783C>G	ENST00000216471.4	+	1	1308	c.1022C>G	c.(1021-1023)tCa>tGa	p.S341*	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	341										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGGAAGAATCAAGAAAAACA	0.368000													9	268					0	0	0.047766	0	0
IKBKE	9641	broad.mit.edu	37	1	206648289	206648289	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:206648289G>A	ENST00000367120.3	+	5	683	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	IKBKE_ENST00000537984.1_Missense_Mutation_p.A19T|IKBKE_ENST00000462698.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	104	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCTGAGAATGCCTTTGGGCT	0.642000													7	74					0	0	0.038147	0	0
MYH15	22989	broad.mit.edu	37	3	108220688	108220688	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:108220688C>A	ENST00000273353.3	-	4	326	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	90	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTTGTCCTCCTTTATGCTCA	0.408000													38	194					5.34276e-22	8.03723e-22	0.139131	1	0
UXT	8409	broad.mit.edu	37	X	47516658	47516658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:47516658C>A	ENST00000335890.2	-	4	469	c.316G>T	c.(316-318)Gga>Tga	p.G106*	UXT_ENST00000333119.3_Nonsense_Mutation_p.G94*|UXT_ENST00000460840.1_5'UTR	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	94					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AAACCATATCCCAGGGCCACA	0.453000													10	30					1.08611e-07	1.30034e-07	0.080935	1	0
MYH15	22989	broad.mit.edu	37	3	108220687	108220687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:108220687C>A	ENST00000273353.3	-	4	327	c.271G>T	c.(271-273)Gag>Tag	p.E91*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	91	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTTTGTCCTCCTTTATGCTC	0.408000													38	192					5.34276e-22	8.03723e-22	0.139131	1	0
RYR2	6262	broad.mit.edu	37	1	237947066	237947066	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:237947066C>A	ENST00000366574.2	+	90	12371	c.12054C>A	c.(12052-12054)gaC>gaA	p.D4018E	RYR2_ENST00000542537.1_Missense_Mutation_p.D4002E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4024E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4018					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTTTTTGACATGTTCTTAA	0.403000													6	57					3.59834e-05	3.96272e-05	0.217242	1	0
GEM	2669	broad.mit.edu	37	8	95262803	95262803	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:95262803C>A	ENST00000297596.2	-	5	890	c.626G>T	c.(625-627)tGt>tTt	p.C209F	GEM_ENST00000396194.2_Missense_Mutation_p.C209F	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	209					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACCACTGCACAGGCTCTCCC	0.547000													16	74					5.01169e-05	5.49602e-05	0.160694	1	0
COX7B2	170712	broad.mit.edu	37	4	46737033	46737033	+	Silent	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:46737033A>C	ENST00000396533.1	-	4	427	c.177T>G	c.(175-177)acT>acG	p.T59T	COX7B2_ENST00000302930.5_Silent_p.T59T|COX7B2_ENST00000355591.3_Silent_p.T59T|COX7B2_ENST00000543208.1_Silent_p.T58T			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	59						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						TTCCAATCTGAGTGGCTGTAA	0.423000													13	149					0	0	0.132662	0	0
SPTA1	6708	broad.mit.edu	37	1	158618310	158618310	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:158618310G>C	ENST00000368148.3	-	26	3883	c.3703C>G	c.(3703-3705)Ctg>Gtg	p.L1235V	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1235V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1235					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTATCTCCCAGGGGTACGAGG	0.498000													9	157					0	0	0.058154	0	0
PCLO	27445	broad.mit.edu	37	7	82532040	82532040	+	Silent	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:82532040C>G	ENST00000423517.2	-	9	13792	c.13455G>C	c.(13453-13455)ggG>ggC	p.G4485G	PCLO_ENST00000333891.8_Silent_p.G4485G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4416					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATAGTTTTCCCGTTCATCT	0.313000													11	28					0	0	0.105934	0	0
MED12	9968	broad.mit.edu	37	X	70348171	70348171	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:70348171G>T	ENST00000333646.6	+	23	3434	c.3235G>T	c.(3235-3237)Gca>Tca	p.A1079S	MED12_ENST00000374102.1_Missense_Mutation_p.A1079S|MED12_ENST00000374080.3_Missense_Mutation_p.A1079S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1079					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AATCCTGTGTGCAGAGCTGAC	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	85					4.35082e-09	5.45944e-09	0.219247	1	0
GPX6	257202	broad.mit.edu	37	6	28478622	28478622	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:28478622G>T	ENST00000361902.1	-	2	196	c.147C>A	c.(145-147)aaC>aaA	p.N49K	GPX6_ENST00000474923.1_Missense_Mutation_p.N49K|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	49					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCCTCGCCGTTGAGGGTGA	0.458000													6	34					0.00116845	0.00123218	0.217242	1	0
ADPRH	141	broad.mit.edu	37	3	119301158	119301158	+	Missense_Mutation	SNP	G	G	T	rs146978056		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:119301158G>T	ENST00000478399.1	+	2	1547	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Missense_Mutation_p.V48L|ADPRH_ENST00000478927.1_Missense_Mutation_p.V48L|ADPRH_ENST00000465513.1_Missense_Mutation_p.V48L			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	48					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGCCCTAGACGTGGGAAGGTG	0.552000													20	21					7.33532e-06	8.28796e-06	0.091800	1	0
TKTL1	8277	broad.mit.edu	37	X	153524338	153524338	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:153524338G>T	ENST00000369915.3	+	1	315	c.126G>T	c.(124-126)acG>acT	p.T42T	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	42					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCTCCACGAGCTCCGGGT	0.617000													38	89					1.47244e-24	2.25401e-24	0.235728	1	0
MYOF	26509	broad.mit.edu	37	10	95157206	95157206	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:95157206G>A	ENST00000371501.4	-	14	1351	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	MYOF_ENST00000358334.5_Missense_Mutation_p.T410I|MYOF_ENST00000371502.4_Missense_Mutation_p.T410I|MYOF_ENST00000359263.4_Missense_Mutation_p.T410I|MYOF_ENST00000371489.1_Missense_Mutation_p.T410I			Q9NZM1	MYOF_HUMAN	myoferlin	410	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AATTATGTTTGTACAAACCTG	0.308000													5	30					0	0	0.184627	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117661	31117661	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:31117661G>C	ENST00000304166.4	+	4	502	c.213G>C	c.(211-213)gaG>gaC	p.E71D	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E71D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.E71D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E71D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	71					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ATGTGGGTGAGATGGTCCTGG	0.602000													17	96					0	0	0.189662	0	0
OR52E2	119678	broad.mit.edu	37	11	5080793	5080793	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:5080793A>T	ENST00000321522.2	-	1	64	c.65T>A	c.(64-66)cTa>cAa	p.L22Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAGTGTTTCTAGTCCTGGGAT	0.483000													31	94					0	0	0.144211	0	0
CORIN	10699	broad.mit.edu	37	4	47746536	47746536	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:47746536C>A	ENST00000273857.4	-	5	681	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	CORIN_ENST00000504584.1_Missense_Mutation_p.G228W|CORIN_ENST00000505909.1_Missense_Mutation_p.G228W|CORIN_ENST00000508498.1_Missense_Mutation_p.G89W|CORIN_ENST00000502252.1_Missense_Mutation_p.G161W	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	228	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCACCATCCCCAGGACTGAT	0.448000													9	484					0.000978159	0.00104417	0.080935	1	0
ERN2	10595	broad.mit.edu	37	16	23712306	23712306	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:23712306C>A	ENST00000256797.4	-	12	1645	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	445					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGAATCCACCCTCCCAGGAGG	0.577000													24	56					5.45727e-16	7.80464e-16	0.134883	1	0
FGL2	10875	broad.mit.edu	37	7	76828787	76828787	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:76828787G>A	ENST00000248598.5	-	1	356	c.324C>T	c.(322-324)gaC>gaT	p.D108D	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	108					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCTGCCTGGGTCTCCGTTGT	0.473000													29	62					0	0	0.125774	0	0
LPL	4023	broad.mit.edu	37	8	19813437	19813437	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:19813437G>T	ENST00000311322.8	+	6	1331	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	287					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATCCAAGTAAGGCCTACAGGT	0.463000													6	112					0.00116845	0.00123218	0.217242	1	0
TXNDC11	51061	broad.mit.edu	37	16	11782159	11782159	+	Splice_Site	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:11782159C>A	ENST00000356957.3	-	10	2231	c.2124_splice	c.e10+1	p.Q708_splice	TXNDC11_ENST00000283033.5_Splice_Site_p.Q681_splice|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	708	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GACTCCATACCTGTTTTTGAA	0.418000													18	124					1.45105e-14	2.03069e-14	0.175082	1	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	rs121913240		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:25380276T>A	ENST00000311936.3	-	3	373	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61L	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	31					0	0	0.146539	0	0
ITGA10	8515	broad.mit.edu	37	1	145528014	145528014	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:145528014C>T	ENST00000369304.3	+	3	426	c.251C>T	c.(250-252)gCc>gTc	p.A84V	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	84					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCACAATGCCCCATGTGCC	0.602000													5	16					0	0	0.184627	0	0
C8orf74	203076	broad.mit.edu	37	8	10557779	10557779	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:10557779C>A	ENST00000304519.5	+	4	712	c.683C>A	c.(682-684)aCc>aAc	p.T228N	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	228										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GCAGTCCACACCCAGATGGAG	0.587000													8	21					3.07112e-06	3.5389e-06	0.080935	1	0
NEBL	10529	broad.mit.edu	37	10	21101754	21101754	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:21101754T>C	ENST00000377122.4	-	24	2858	c.2462A>G	c.(2461-2463)tAt>tGt	p.Y821C	NEBL_ENST00000417816.2_Missense_Mutation_p.Y158C|NEBL_ENST00000377159.4_Missense_Mutation_p.Y124C	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	821					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCCCTTTATAGGCAGCATC	0.527000													4	136					0	0	0.184627	0	0
OTOP1	133060	broad.mit.edu	37	4	4199344	4199344	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:4199344C>A	ENST00000296358.4	-	5	1241	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	406					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTGAGCCCCAGGAGATAAG	0.587000													10	29					7.48243e-07	8.81677e-07	0.058154	1	0
CDH20	28316	broad.mit.edu	37	18	59174687	59174687	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:59174687G>C	ENST00000262717.4	+	6	1309	c.911G>C	c.(910-912)gGc>gCc	p.G304A	CDH20_ENST00000538374.1_Missense_Mutation_p.G304A|CDH20_ENST00000536675.2_Missense_Mutation_p.G304A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	304	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTGGATGAAGGCATCAATGCA	0.438000													5	83					0	0	0.184627	0	0
VPRBP	9730	broad.mit.edu	37	3	51477789	51477789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:51477789G>T	ENST00000335891.5	-	5	515	c.506C>A	c.(505-507)tCa>tAa	p.S169*				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	169					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TACCAGCTGTGAATTTTCATC	0.373000													6	19					0.00116845	0.00123218	0.217242	1	0
FAM135B	51059	broad.mit.edu	37	8	139164170	139164170	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:139164170C>A	ENST00000395297.1	-	13	2718	c.2548G>T	c.(2548-2550)Ggg>Tgg	p.G850W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	850										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCCCTTTCCCTTTGGGGATG	0.488000										HNSCC(54;0.14)			20	137					3.73194e-20	5.56592e-20	0.219247	1	0
PAFAH1B3	5050	broad.mit.edu	37	19	42804211	42804211	+	Nonsense_Mutation	SNP	C	C	A	rs145175030		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:42804211C>A	ENST00000538771.1	-	5	675	c.319G>T	c.(319-321)Gga>Tga	p.G107*	PAFAH1B3_ENST00000262890.3_Nonsense_Mutation_p.G107*	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	107					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				GCTGTGTGTCCGTGGTTGTTG	0.577000													34	31					2.87052e-16	4.12785e-16	0.225048	1	0
LPHN3	23284	broad.mit.edu	37	4	62542617	62542617	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:62542617A>T	ENST00000512091.1	+	5	1090	c.343A>T	c.(343-345)Aaa>Taa	p.K115*	LPHN3_ENST00000514591.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.K183*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	115	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGGAACCTATAAATACCTTGA	0.398000													7	210					0	0	0.038147	0	0
ERCC3	2071	broad.mit.edu	37	2	128016978	128016978	+	Missense_Mutation	SNP	G	G	A	rs4150521	byFrequency	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:128016978G>A	ENST00000493187.2	-	14	2382	c.1919C>T	c.(1918-1920)tCg>tTg	p.S640L	ERCC3_ENST00000285398.2_Missense_Mutation_p.S704L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	704	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTCTTTTGTCGAAAACGCCAA	0.567000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	95					0	0	0.184627	0	0
SGIP1	84251	broad.mit.edu	37	1	67105479	67105479	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:67105479C>A	ENST00000371037.4	+	5	268	c.191C>A	c.(190-192)cCa>cAa	p.P64Q	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.P39Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P40Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P68Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	64					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATGGGGCACCAAATGGATTT	0.299000													37	46					1.06522e-23	1.62112e-23	0.131918	1	0
ATP11A	23250	broad.mit.edu	37	13	113473716	113473716	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:113473716C>T	ENST00000487903.1	+	7	757	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ATP11A_ENST00000375630.2_Silent_p.L223L|ATP11A_ENST00000283558.8_Silent_p.L223L|ATP11A_ENST00000375645.3_Silent_p.L223L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	223					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCCCGACCTCTACAAGTAAG	0.532000													14	35					0	0	0.132662	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242008	87242008	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:87242008T>C	ENST00000297524.3	-	1	602	c.499A>G	c.(499-501)Aaa>Gaa	p.K167E	SLC7A13_ENST00000419776.2_Missense_Mutation_p.K167E|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	167						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGGACACTTTCAGCACTGAG	0.418000													57	124					0	0	0.139131	0	0
MRM1	79922	broad.mit.edu	37	17	34964752	34964752	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:34964752A>T	ENST00000250156.7	+	5	1202	c.963A>T	c.(961-963)caA>caT	p.Q321H	MRM1_ENST00000585770.1_Missense_Mutation_p.Q126H	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	321					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGCTTCTCCAAGACCCCCAAG	0.562000													8	133					0	0	0.038147	0	0
LEPROTL1	23484	broad.mit.edu	37	8	29963354	29963354	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:29963354C>T	ENST00000321250.8	+	4	487	c.372C>T	c.(370-372)gaC>gaT	p.D124D	LEPROTL1_ENST00000442880.2_Intron|LEPROTL1_ENST00000518192.1_Silent_p.D147D|LEPROTL1_ENST00000523116.1_Intron|LEPROTL1_ENST00000518001.1_Silent_p.D63D	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	124						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GAAGCAATGACGACTTCAGCT	0.448000													5	69					0	0	0.184627	0	0
CHRM5	1133	broad.mit.edu	37	15	34355078	34355078	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:34355078T>A	ENST00000383263.5	+	3	830	c.160T>A	c.(160-162)Tcc>Acc	p.S54T	CHRM5_ENST00000557872.1_Missense_Mutation_p.S54T	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	54					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GGTCATGATCTCCTTCAAAGT	0.478000													23	36					0	0	0.069288	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881213	228881213	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:228881213G>A	ENST00000392056.3	-	7	4403	c.4357C>T	c.(4357-4359)Cta>Tta	p.L1453L	SPHKAP_ENST00000344657.5_Silent_p.L1453L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1453						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTCCTCTAGGAGGCTGCTT	0.493000													9	44					0	0	0.047766	0	0
IL20RA	53832	broad.mit.edu	37	6	137330566	137330566	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:137330566G>T	ENST00000367748.1	-	3	720	c.134C>A	c.(133-135)aCa>aAa	p.T45K	IL20RA_ENST00000367746.3_Missense_Mutation_p.T156K|IL20RA_ENST00000541547.1_Missense_Mutation_p.T107K|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.T156K			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	156	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTCTGGAGCTGTCAGGACAAC	0.428000													18	63					5.03518e-11	6.62057e-11	0.189662	1	0
WBP5	51186	broad.mit.edu	37	X	102612685	102612685	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:102612685C>A	ENST00000372661.3	+	3	384	c.73C>A	c.(73-75)Cct>Act	p.P25T	WBP5_ENST00000372656.3_Missense_Mutation_p.P25T	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	25	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGAGCCAAAGCCTGAGGAAAA	0.433000													15	83					1.49906e-05	1.67561e-05	0.119110	1	0
TPTE	7179	broad.mit.edu	37	21	10941970	10941970	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:10941970G>T	ENST00000298232.7	-	13	1046	c.679C>A	c.(679-681)Cgt>Agt	p.R227S	TPTE_ENST00000342420.5_Missense_Mutation_p.R207S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R245S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	245					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAATAATACGTTCTAAAAGT	0.289000													10	138					1.58986e-06	1.86078e-06	0.069234	1	0
VANGL2	57216	broad.mit.edu	37	1	160395115	160395115	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:160395115G>T	ENST00000368061.2	+	8	1987	c.1513G>T	c.(1513-1515)Gat>Tat	p.D505Y		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	505					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAATTTGTGGATCCCAAGTC	0.537000													53	194					3.8688e-20	5.75361e-20	0.139131	1	0
GALNT14	79623	broad.mit.edu	37	2	31178601	31178601	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:31178601C>T	ENST00000349752.5	-	6	1176	c.537G>A	c.(535-537)ctG>ctA	p.L179L	GALNT14_ENST00000324589.5_Silent_p.L184L|GALNT14_ENST00000420311.2_Silent_p.L144L|GALNT14_ENST00000406653.1_Silent_p.L159L|GALNT14_ENST00000356174.3_Silent_p.L146L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	179	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGACCGGACCAGACCTGCAG	0.607000													28	136					0	0	0.116897	0	0
OVOL2	58495	broad.mit.edu	37	20	18005403	18005403	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:18005403A>T	ENST00000278780.6	-	4	947	c.705T>A	c.(703-705)agT>agA	p.S235R	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	235					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CCGGATGGGCACTGTTCACGT	0.572000													8	14					0	0	0.038147	0	0
ZNF654	55279	broad.mit.edu	37	3	88188579	88188579	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:88188579T>C	ENST00000309495.5	+	1	326	c.119T>C	c.(118-120)aTg>aCg	p.M40T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGAGGACTTATGCAGAAGCAT	0.393000													12	74					0	0	0.105934	0	0
PRCP	5547	broad.mit.edu	37	11	82560238	82560238	+	Silent	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:82560238A>C	ENST00000313010.3	-	6	968	c.774T>G	c.(772-774)acT>acG	p.T258T	PRCP_ENST00000535099.1_Silent_p.T153T|PRCP_ENST00000393399.2_Silent_p.T279T	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	258	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAAGGGCTCCAGTAAGCCACT	0.428000													43	80					0	0	0.131918	0	0
CDH3	1001	broad.mit.edu	37	16	68712778	68712778	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:68712778C>T	ENST00000264012.4	+	6	1204	c.660C>T	c.(658-660)ttC>ttT	p.F220F	CDH3_ENST00000581171.1_Silent_p.F165F|CDH3_ENST00000429102.2_Silent_p.F220F	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGACACCTTCCGAGGGAGTG	0.552000													3	9					0	0	0.150653	0	0
HMCN1	83872	broad.mit.edu	37	1	186077690	186077690	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:186077690A>T	ENST00000271588.4	+	71	11179	c.10950A>T	c.(10948-10950)ccA>ccT	p.P3650P	HMCN1_ENST00000367492.2_Silent_p.P3650P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3650	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTGCCCCCACCTGTAATTA	0.413000													26	93					0	0	0.125774	0	0
RNF103	7844	broad.mit.edu	37	2	86847582	86847582	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:86847582C>A	ENST00000237455.4	-	2	1205	c.237G>T	c.(235-237)atG>atT	p.M79I	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Start_Codon_SNP_p.M1I|CHMP3_ENST00000439940.2_Start_Codon_SNP_p.M1I	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	79					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GCTCACCCTCCATCAAGTCAC	0.383000													8	33					1.06961e-07	1.28354e-07	0.038147	1	0
ZNF716	441234	broad.mit.edu	37	7	57528450	57528450	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:57528450C>A	ENST00000420713.1	+	4	395	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCATTTCACCCAAGACCTTCA	0.318000													5	63					5.9392e-07	7.01417e-07	0.217242	1	0
ALDH1B1	219	broad.mit.edu	37	9	38396569	38396569	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:38396569G>T	ENST00000377698.3	+	2	977	c.824G>T	c.(823-825)gGc>gTc	p.G275V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	275					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.G275D(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAAGCAGCTGGCGATTCCAAC	0.617000													17	39					1.67942e-08	2.05788e-08	0.175082	1	0
PKLR	5313	broad.mit.edu	37	1	155264135	155264135	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:155264135G>T	ENST00000392414.3	-	7	1027	c.914C>A	c.(913-915)gCa>gAa	p.A305E	PKLR_ENST00000342741.4_Missense_Mutation_p.A336E	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	336					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTCCCCCCGTGCCACCATGAT	0.552000													11	122					1.11149e-13	1.54308e-13	0.069234	1	0
SLC39A14	23516	broad.mit.edu	37	8	22273459	22273459	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:22273459C>T	ENST00000359741.5	+	6	1103	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	SLC39A14_ENST00000240095.6_Missense_Mutation_p.L310F|SLC39A14_ENST00000289952.5_Missense_Mutation_p.L310F|SLC39A14_ENST00000381237.1_Missense_Mutation_p.L310F	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	310						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGTGGGCTCGCTCTCTGTGCA	0.602000													6	18					0	0	0.217242	0	0
ZNF697	90874	broad.mit.edu	37	1	120166626	120166626	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:120166626G>A	ENST00000421812.2	-	3	459	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGGAGGCTCCGGGATATGCTG	0.612000													17	22					0	0	0.146539	0	0
SP1	6667	broad.mit.edu	37	12	53775908	53775908	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:53775908C>T	ENST00000426431.2	+	3	216	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SP1_ENST00000327443.4_Silent_p.S59S	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	59	Repressor domain.|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCCAGCCATCCCCTTTGGCTC	0.547000											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					0	0	0.047766	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872217	51872217	+	Silent	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:51872217G>C	ENST00000371497.5	+	2	3107	c.2220G>C	c.(2218-2220)ccG>ccC	p.P740P	TSHZ2_ENST00000329613.6_Silent_p.P737P|TSHZ2_ENST00000603338.2_Silent_p.P737P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	740					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGACAAGCCGGTCTTGAGTC	0.542000													34	47					0	0	0.203993	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786048	19786048	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:19786048A>C	ENST00000341998.2	-	1	878	c.817T>G	c.(817-819)Tat>Gat	p.Y273D	SLC24A2_ENST00000286344.3_Missense_Mutation_p.Y273D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	273					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAGCAAAAATAAGCTGTTAAG	0.388000													21	51					0	0	0.219247	0	0
LPAL2	80350	broad.mit.edu	37	6	160903809	160903809	+	RNA	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:160903809C>A	ENST00000335388.5	-	0	1074					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CTGTCCATTACCGTGGTAGCA	0.478000													25	166					7.33532e-06	8.28796e-06	0.091800	1	0
SALL4	57167	broad.mit.edu	37	20	50407375	50407375	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:50407375C>T	ENST00000217086.4	-	2	1758	c.1647G>A	c.(1645-1647)ctG>ctA	p.L549L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	549					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGCAATTTCAGGGTCTCTG	0.557000													5	75					0	0	0.217242	0	0
PREX2	80243	broad.mit.edu	37	8	68934373	68934373	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:68934373T>A	ENST00000288368.4	+	4	716	c.439T>A	c.(439-441)Ttg>Atg	p.L147M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	147	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GACATTTCTTTTGGTAAGTGT	0.338000													8	73					0	0	0.038147	0	0
KCNK2	3776	broad.mit.edu	37	1	215342563	215342563	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:215342563G>T	ENST00000444842.2	+	4	647	c.497G>T	c.(496-498)cGc>cTc	p.R166L	KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166							outward rectifier potassium channel activity	p.R166L(1)|p.R151L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCTCACCACGCACAGAAGGC	0.368000													22	266					9.86323e-18	1.43816e-17	0.091800	1	0
RPH3A	22895	broad.mit.edu	37	12	113307819	113307819	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:113307819T>A	ENST00000389385.4	+	10	1268	c.771T>A	c.(769-771)gcT>gcA	p.A257A	RPH3A_ENST00000543106.2_Silent_p.A257A|RPH3A_ENST00000447659.2_Silent_p.A208A|RPH3A_ENST00000415485.3_Silent_p.A257A|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.A257A|RPH3A_ENST00000551052.1_Silent_p.A253A|RPH3A_ENST00000548866.1_Silent_p.A208A	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	257	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GTGGGGGTGCTGGAGACTCCA	0.582000													14	26					0	0	0.175082	0	0
DNMT1	1786	broad.mit.edu	37	19	10257064	10257064	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:10257064C>A	ENST00000340748.4	-	27	3044	c.2809G>T	c.(2809-2811)Gat>Tat	p.D937Y	DNMT1_ENST00000359526.4_Missense_Mutation_p.D953Y|DNMT1_ENST00000540357.1_Missense_Mutation_p.D937Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	937					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TACACACCATCACCAACTCGG	0.617000													9	14					2.17888e-05	2.41994e-05	0.058154	1	0
ATM	472	broad.mit.edu	37	11	108205807	108205807	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:108205807G>A	ENST00000278616.4	+	55	8507	c.8122G>A	c.(8122-8124)Gat>Aat	p.D2708N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2708N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2708					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.D2708N(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTAGGTTCCGATGGCAAGGA	0.378000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			24	19					0	0	0.076483	0	0
MUC16	94025	broad.mit.edu	37	19	9089919	9089919	+	Silent	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:9089919T>G	ENST00000397910.4	-	1	2099	c.1896A>C	c.(1894-1896)gcA>gcC	p.A632A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	632	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGATGATGCTGTGGCTC	0.582000													49	210					0	0	0.139131	0	0
AKR7A3	22977	broad.mit.edu	37	1	19612451	19612451	+	Silent	SNP	T	T	G	rs139064823		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:19612451T>G	ENST00000361640.4	-	3	978	c.438A>C	c.(436-438)gcA>gcC	p.A146A		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	146					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCCAGGCTGCATAGTTGG	0.607000													3	15					0	0	0.150653	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627822	43627822	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:43627822T>A	ENST00000332857.6	-	4	893	c.865A>T	c.(865-867)Acc>Tcc	p.T289S	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GCGCACGAGGTTCTGGCAGTC	0.557000													8	156					0	0	0.069234	0	0
PXDNL	137902	broad.mit.edu	37	8	52284605	52284605	+	Silent	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:52284605T>G	ENST00000356297.4	-	19	3829	c.3729A>C	c.(3727-3729)gcA>gcC	p.A1243A	PXDNL_ENST00000543296.1_Silent_p.A1243A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1243					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGTGAGTTGTGCCGGGGTAA	0.498000													3	24					0	0	0.150653	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569691	61569691	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:61569691A>T	ENST00000457692.1	+	8	1065	c.732A>T	c.(730-732)ggA>ggT	p.G244G	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.G244G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	244					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TAAACATTGGATACATAGAAG	0.388000													10	57					0	0	0.080935	0	0
ZNF418	147686	broad.mit.edu	37	19	58438098	58438098	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:58438098C>A	ENST00000396147.1	-	4	1742	c.1451G>T	c.(1450-1452)tGt>tTt	p.C484F	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.C505F|ZNF418_ENST00000595830.1_Missense_Mutation_p.C484F|ZNF418_ENST00000599852.1_Missense_Mutation_p.C399F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACATTCATTACATTCATATGG	0.433000													13	103					0.00244969	0.00256261	0.119110	1	0
VMO1	284013	broad.mit.edu	37	17	4688821	4688821	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:4688821C>T	ENST00000328739.5	-	3	524	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	149					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AGTTCCTCGCCGTCTGAACAG	0.652000													3	53					0	0	0.150653	0	0
GRB14	2888	broad.mit.edu	37	2	165404188	165404188	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:165404188G>A	ENST00000263915.3	-	3	1001	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	GRB14_ENST00000543549.1_Silent_p.L68L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	155	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATGTGAGGCAGGTGCTCAAAA	0.418000													14	67					0	0	0.119110	0	0
WIPI2	26100	broad.mit.edu	37	7	5266848	5266848	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:5266848G>T	ENST00000288828.4	+	10	1118	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	WIPI2_ENST00000484262.1_Missense_Mutation_p.G237W|WIPI2_ENST00000382384.2_Missense_Mutation_p.G278W|WIPI2_ENST00000404704.3_Missense_Mutation_p.G296W|WIPI2_ENST00000401525.3_Missense_Mutation_p.G278W	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	296					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CGGGTACTTCGGGAAAGTGCT	0.632000													8	13					0.000274275	0.000296422	0.047766	1	0
RNF150	57484	broad.mit.edu	37	4	141789440	141789440	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:141789440T>G	ENST00000306799.3	-	7	1819	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P	RNF150_ENST00000379512.2_Missense_Mutation_p.Q290P|RNF150_ENST00000420921.2_Missense_Mutation_p.Q290P|RNF150_ENST00000515673.1_Missense_Mutation_p.Q431P	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	431						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTCACAGTCCTGGTCAGTGGA	0.478000													9	36					0	0	0.058154	0	0
CPT1C	126129	broad.mit.edu	37	19	50209333	50209333	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:50209333C>A	ENST00000392518.4	+	11	1504	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N	CPT1C_ENST00000323446.5_Missense_Mutation_p.H378N|CPT1C_ENST00000598293.1_Missense_Mutation_p.H378N|CPT1C_ENST00000405931.2_Missense_Mutation_p.H367N|CPT1C_ENST00000354199.5_Missense_Mutation_p.H378N	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	378				HEEH -> RTRG (in Ref. 6; CAD38561).	fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGAGGAACATCTGGCAGC	0.637000													5	28					0.0293803	0.0303094	0.029380	1	0
SPAM1	6677	broad.mit.edu	37	7	123593676	123593676	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:123593676A>C	ENST00000340011.5	+	3	409	c.52A>C	c.(52-54)Agt>Cgt	p.S18R	SPAM1_ENST00000223028.7_Missense_Mutation_p.S18R|SPAM1_ENST00000402183.2_Missense_Mutation_p.S18R|SPAM1_ENST00000439500.1_Missense_Mutation_p.S18R|SPAM1_ENST00000460182.1_Missense_Mutation_p.S18R	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	18					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGTTAAATCAAGTGGAGTATC	0.373000													4	54					0	0	0.184627	0	0
MMP2	4313	broad.mit.edu	37	16	55525796	55525796	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:55525796G>T	ENST00000219070.4	+	8	1773	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	MMP2_ENST00000570308.1_Missense_Mutation_p.A346S|MMP2_ENST00000437642.2_Missense_Mutation_p.A372S|MMP2_ENST00000543485.1_Missense_Mutation_p.A346S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	422	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGCCCTGATGGCACCCATTTA	0.612000													15	90					1.3612e-06	1.59674e-06	0.132662	1	0
SEMA5A	9037	broad.mit.edu	37	5	9119214	9119214	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:9119214G>A	ENST00000382496.5	-	15	2486	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	607	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGTAGTGCTGCAGGGAGACC	0.652000													4	12					0	0	0.150653	0	0
LAX1	54900	broad.mit.edu	37	1	203743159	203743159	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:203743159G>A	ENST00000442561.2	+	5	937	c.547G>A	c.(547-549)Gca>Aca	p.A183T	LAX1_ENST00000367217.5_Missense_Mutation_p.A167T|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	183					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGACTGCGCAAGCATTTC	0.507000													13	104					0	0	0.093190	0	0
FNIP2	57600	broad.mit.edu	37	4	159791535	159791535	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:159791535T>C	ENST00000264433.6	+	14	2938	c.2863T>C	c.(2863-2865)Tac>Cac	p.Y955H	FNIP2_ENST00000379346.3_Missense_Mutation_p.Y978H	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	955					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTGCCCCACATACATGCCTGA	0.527000													18	47					0	0	0.189662	0	0
SYNE2	23224	broad.mit.edu	37	14	64443330	64443330	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:64443330A>G	ENST00000358025.3	+	12	1408	c.1178A>G	c.(1177-1179)cAt>cGt	p.H393R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.H393R|SYNE2_ENST00000554584.1_Missense_Mutation_p.H393R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	393					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCACCCCTCCATCAAACTGAA	0.393000													14	209					0	0	0.119110	0	0
LRIT2	340745	broad.mit.edu	37	10	85984731	85984731	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:85984731G>A	ENST00000372113.4	-	2	255	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	LRIT2_ENST00000538192.1_Missense_Mutation_p.L84F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	84						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGAGCCAGAGGTATTCCAAG	0.473000													22	86					0	0	0.069288	0	0
WDR16	146845	broad.mit.edu	37	17	9501582	9501582	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:9501582C>T	ENST00000352665.5	+	5	637	c.568C>T	c.(568-570)Cca>Tca	p.P190S	WDR16_ENST00000299764.5_Missense_Mutation_p.P200S|WDR16_ENST00000396219.3_Missense_Mutation_p.P122S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	190						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTGGATCTTCCAAATAGAAA	0.323000													5	40					0	0	0.217242	0	0
C17orf47	284083	broad.mit.edu	37	17	56620020	56620020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:56620020G>A	ENST00000321691.3	-	1	1709	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	510										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAATGGGTTGTTTGCAGGTG	0.527000													67	111					0	0	0.139131	0	0
CNNM4	26504	broad.mit.edu	37	2	97474331	97474331	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:97474331G>T	ENST00000377075.2	+	6	2080	c.1982G>T	c.(1981-1983)cGc>cTc	p.R661L	CNNM4_ENST00000540067.1_Missense_Mutation_p.R148L|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	661					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCACTCAGCCGCTCAGCCTCC	0.612000													12	24					0.00185496	0.00194827	0.105934	1	0
LDB2	9079	broad.mit.edu	37	4	16760835	16760835	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:16760835C>A	ENST00000502640.1	-	2	329	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	LDB2_ENST00000304523.5_Missense_Mutation_p.D61Y|LDB2_ENST00000515064.1_Missense_Mutation_p.D61Y|LDB2_ENST00000441778.2_Missense_Mutation_p.D61Y			O43679	LDB2_HUMAN	LIM domain binding 2	61							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTGGCGTCATCTTCAAAAAAT	0.383000													24	82					4.26978e-12	5.70032e-12	0.083992	1	0
CTPS1	1503	broad.mit.edu	37	1	41457512	41457512	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:41457512G>C	ENST00000372621.4	+	7	1223	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	CTPS1_ENST00000372616.1_Missense_Mutation_p.E239Q|CTPS1_ENST00000541520.1_Missense_Mutation_p.E8Q|CTPS1_ENST00000543104.1_Missense_Mutation_p.E246Q	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	239					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TGTTGAGCCTGAACAAGTGAG	0.383000													9	58					0	0	0.069234	0	0
ZNF83	55769	broad.mit.edu	37	19	53117519	53117519	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:53117519T>A	ENST00000597597.1	-	2	2552	c.299A>T	c.(298-300)aAg>aTg	p.K100M	ZNF83_ENST00000545872.1_Missense_Mutation_p.K100M|ZNF83_ENST00000301096.3_Missense_Mutation_p.K100M|ZNF83_ENST00000544146.1_Missense_Mutation_p.K100M|ZNF83_ENST00000541777.2_Missense_Mutation_p.K100M|ZNF83_ENST00000391789.4_Missense_Mutation_p.K100M|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.K100M			P51522	ZNF83_HUMAN	zinc finger protein 83	100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ATGAAAGGCCTTGCCACGCTC	0.313000													20	86					0	0	0.091800	0	0
THRAP3	9967	broad.mit.edu	37	1	36748202	36748202	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:36748202C>G	ENST00000354618.5	+	3	262	c.38C>G	c.(37-39)tCt>tGt	p.S13C	THRAP3_ENST00000469141.2_Missense_Mutation_p.S13C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	13	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGATCTCGCTCTTCTCGCTCA	0.438000			T	USP6	aneurysmal bone cysts								6	37					0	0	0.217242	0	0
NUP205	23165	broad.mit.edu	37	7	135323374	135323374	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:135323374G>T	ENST00000285968.6	+	38	5361	c.5335G>T	c.(5335-5337)Gtg>Ttg	p.V1779L		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1779					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCAGCATGCTGTGTGTCTCTT	0.393000													24	119					1.85244e-09	2.34134e-09	0.083992	1	0
WDR25	79446	broad.mit.edu	37	14	100934399	100934399	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:100934399C>T	ENST00000335290.6	+	3	1090	c.864C>T	c.(862-864)taC>taT	p.Y288Y	WDR25_ENST00000542471.2_Silent_p.Y31Y|WDR25_ENST00000554998.1_Silent_p.Y288Y|WDR25_ENST00000402312.3_Silent_p.Y288Y	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	288										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGCAGACCTACTCCCTGCACA	0.637000													7	46					0	0	0.038147	0	0
LARP1	23367	broad.mit.edu	37	5	154173195	154173195	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:154173195G>T	ENST00000336314.4	+	5	573	c.549G>T	c.(547-549)aaG>aaT	p.K183N		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	260							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGACATGAAGCCTGAAGTGC	0.537000													15	201					9.16793e-09	1.13944e-08	0.160694	1	0
WNK3	65267	broad.mit.edu	37	X	54337551	54337551	+	Splice_Site	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:54337551C>T	ENST00000354646.2	-	3	1149		c.e3+1		WNK3_ENST00000375169.3_Splice_Site|WNK3_ENST00000375159.2_Splice_Site	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3						intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTCAACTTACGTCTTTAAGG	0.289000													6	6					0	0	0.217242	0	0
RAG2	5897	broad.mit.edu	37	11	36614149	36614149	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:36614149T>A	ENST00000311485.3	-	2	1731	c.1570A>T	c.(1570-1572)Agg>Tgg	p.R524W		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	524					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCAAACAACCTTCTAAGAAAG	0.323000									Familial Hemophagocytic Lymphohistiocytosis				4	26					0	0	0.150653	0	0
SETD2	29072	broad.mit.edu	37	3	47098503	47098503	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:47098503C>T	ENST00000409792.3	-	15	6813	c.6771G>A	c.(6769-6771)ttG>ttA	p.L2257L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2257	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCGGCACTGGCAAGACAGCAA	0.542000			"""N, F, S, Mis"""		clear cell renal carcinoma								5	18					0	0	0.217242	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856868	62856868	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:62856868T>A	ENST00000584306.1	-	11	3926	c.3396A>T	c.(3394-3396)ctA>ctT	p.L1132L	LRRC37A3_ENST00000400877.3_Silent_p.L170L|LRRC37A3_ENST00000339474.5_Silent_p.L250L|LRRC37A3_ENST00000319651.5_Silent_p.L1132L|LRRC37A3_ENST00000334962.5_Silent_p.L109L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1132						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATTTCACATCTAGGTTAACGG	0.433000													32	210					0	0	0.144211	0	0
CLCN1	1180	broad.mit.edu	37	7	143047738	143047738	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:143047738C>T	ENST00000343257.2	+	22	2673	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	862	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCGTCCTGGCCCTGGAGGAGG	0.557000													68	134					0	0	0.139131	0	0
SZT2	23334	broad.mit.edu	37	1	43894141	43894141	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:43894141C>A	ENST00000562955.1	+	27	3979	c.3979C>A	c.(3979-3981)Cta>Ata	p.L1327I	SZT2_ENST00000372442.1_Missense_Mutation_p.L485I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1384						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACGAGCTATCCTAGCTTCTGA	0.537000													5	76					0.014758	0.0153154	0.184627	1	0
MASTL	84930	broad.mit.edu	37	10	27475433	27475433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:27475433C>T	ENST00000375946.4	+	12	3208	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*	MASTL_ENST00000342386.6_Nonsense_Mutation_p.Q831*|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Nonsense_Mutation_p.Q870*	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	870	AGC-kinase C-terminal.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.Q869K(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAATACTGCTCAGCACCTGAC	0.398000													23	135					0	0	0.076483	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182233	140182233	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:140182233C>A	ENST00000522353.2	+	1	1451	c.1451C>A	c.(1450-1452)gCg>gAg	p.A484E	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A484E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.667000													22	18					5.61819e-17	8.14637e-17	0.108266	1	0
TREML2	79865	broad.mit.edu	37	6	41166027	41166027	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:41166027C>G	ENST00000483722.1	-	2	381	c.196G>C	c.(196-198)Ggc>Cgc	p.G66R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	66	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGGGCAAAGCCAGGCTCACAC	0.567000													47	78					0	0	0.139131	0	0
KLHL4	56062	broad.mit.edu	37	X	86877378	86877378	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:86877378G>T	ENST00000373119.4	+	5	1237	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	KLHL4_ENST00000373114.4_Silent_p.L364L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	364						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAGGAGAACTGGGGATGCTGC	0.433000													17	116					3.52763e-06	4.04709e-06	0.160694	1	0
CDH20	28316	broad.mit.edu	37	18	59206373	59206373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:59206373G>T	ENST00000262717.4	+	9	1923	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*	CDH20_ENST00000538374.1_Nonsense_Mutation_p.G509*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.G509*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	509	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGCCAAGGCAGGACAGGTAAG	0.448000													19	41					4.96729e-08	6.01607e-08	0.204396	1	0
HPS5	11234	broad.mit.edu	37	11	18313428	18313428	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:18313428C>A	ENST00000396253.3	-	15	2121	c.1659G>T	c.(1657-1659)atG>atT	p.M553I	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.M553I|HPS5_ENST00000349215.3_Missense_Mutation_p.M667I	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	667						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTTCAATTTCATGGATGAGT	0.338000									Hermansky-Pudlak syndrome				22	79					2.39556e-15	3.38885e-15	0.076483	1	0
SCN10A	6336	broad.mit.edu	37	3	38770317	38770317	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:38770317C>A	ENST00000449082.2	-	15	2355	c.2356G>T	c.(2356-2358)Gca>Tca	p.A786S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	786					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCCCCAGTGCCCCCACTGAG	0.512000													17	69					1.67942e-08	2.05788e-08	0.175082	1	0
MMP14	4323	broad.mit.edu	37	14	23313044	23313044	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:23313044G>A	ENST00000311852.6	+	6	1237	c.976G>A	c.(976-978)Gtg>Atg	p.V326M	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	326	Hemopexin-like 1.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CTTTGACACCGTGGCCATGCT	0.557000													4	23					0	0	0.150653	0	0
PTPN9	5780	broad.mit.edu	37	15	75761285	75761285	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:75761285T>C	ENST00000306726.2	-	13	2119	c.1607A>G	c.(1606-1608)gAg>gGg	p.E536G		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	536	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCAAGCTCCTCCAGCTGTGC	0.522000													14	19					0	0	0.146539	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320947	128320947	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:128320947T>A	ENST00000262462.4	+	2	1613	c.603T>A	c.(601-603)ccT>ccA	p.P201P	SLC27A6_ENST00000395266.1_Silent_p.P201P|SLC27A6_ENST00000506176.1_Silent_p.P201P			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	201					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCACCTCACCTGATGAGCCCG	0.428000													4	32					0	0	0.184627	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805815	20805815	+	RNA	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:20805815C>A	ENST00000577537.1	+	0	999				RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA																							TTTTCCTGCCCTTCTGAAACT	0.512000													16	37					2.48551e-13	3.38756e-13	0.160694	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410043	105410043	+	Silent	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:105410043T>C	ENST00000333244.5	-	7	11864	c.11745A>G	c.(11743-11745)ctA>ctG	p.L3915L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3915						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGTCTTTTAGGTCCAGCT	0.587000													5	60					0	0	0.184627	0	0
USP47	55031	broad.mit.edu	37	11	11926949	11926949	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:11926949G>A	ENST00000339865.5	+	7	1382	c.619G>A	c.(619-621)Gat>Aat	p.D207N	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.D295N|USP47_ENST00000527733.1_Missense_Mutation_p.D275N	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	295					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTTTAGGCTGATCTTATAAA	0.323000													8	19					0	0	0.038147	0	0
TRAM2	9697	broad.mit.edu	37	6	52369391	52369391	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:52369391G>C	ENST00000182527.3	-	10	1036	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	346					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GCACTCACCAGATTCCCTCTT	0.622000													16	20					0	0	0.189662	0	0
NTNG1	22854	broad.mit.edu	37	1	107979286	107979286	+	Splice_Site	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:107979286G>T	ENST00000370068.1	+	7	2101		c.e7-1		NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370073.2_Splice_Site|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Splice_Site|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370061.3_Splice_Site|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGTTTCTACAGAGTGTTATTG	0.438000													15	59					2.35188e-11	3.10806e-11	0.175082	1	0
CLIP1	6249	broad.mit.edu	37	12	122826219	122826219	+	Missense_Mutation	SNP	C	C	A	rs145140413		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:122826219C>A	ENST00000358808.2	-	10	1653	c.1499G>T	c.(1498-1500)cGt>cTt	p.R500L	CLIP1_ENST00000545889.1_Missense_Mutation_p.R201L|CLIP1_ENST00000540338.1_Missense_Mutation_p.R511L|CLIP1_ENST00000537178.1_Missense_Mutation_p.R465L|CLIP1_ENST00000361654.4_Missense_Mutation_p.R465L|CLIP1_ENST00000302528.7_Missense_Mutation_p.R500L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	511					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCATTATACGTGACTTTTC	0.383000													23	39					1.64293e-13	2.26881e-13	0.083992	1	0
NOL6	65083	broad.mit.edu	37	9	33467824	33467824	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:33467824C>T	ENST00000379471.2	-	12	1554	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L437L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	489					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCCAGAGCTTCAGCCGGTGGC	0.642000													5	8					0	0	0.217242	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9380	9380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrM:9380G>A	ENST00000362079.2	+	1	174	c.174G>A	c.(172-174)tgG>tgA	p.58_58ins*						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						TACCAATGGTGGCGCGATGTA	0.473000													13	592					0	0	0.105934	0	0
COBL	23242	broad.mit.edu	37	7	51095701	51095701	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:51095701G>C	ENST00000395542.2	-	12	3522	c.3338C>G	c.(3337-3339)gCc>gGc	p.A1113G	COBL_ENST00000265136.7_Missense_Mutation_p.A1031G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1031	WH2 1.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTGCTGCAGGCCTGAGTGTC	0.622000													18	23					0	0	0.204396	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290725	141290725	+	Missense_Mutation	SNP	G	G	C	rs150181121		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:141290725G>C	ENST00000247452.3	-	3	1396	c.1049C>G	c.(1048-1050)aCc>aGc	p.T350S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	350						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATCTGCGGTATCAATTGT	0.468000										HNSCC(46;0.14)			50	302					0	0	0.139131	0	0
SCAF8	22828	broad.mit.edu	37	6	155129873	155129873	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:155129873A>G	ENST00000367178.3	+	11	1743	c.1167A>G	c.(1165-1167)caA>caG	p.Q389Q	SCAF8_ENST00000417268.1_Silent_p.Q389Q|SCAF8_ENST00000367186.4_Silent_p.Q455Q	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	389					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCTTTGAACAAGAAGCTAAGA	0.403000													29	42					0	0	0.104719	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559701	140559701	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:140559701G>T	ENST00000239444.2	+	1	2331	c.2086G>T	c.(2086-2088)Gcc>Tcc	p.A696S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		696					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCGTTGGCCTCGGTGTC	0.682000													39	47					7.05121e-23	1.06688e-22	0.117977	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98411325	98411325	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:98411325T>C	ENST00000339364.5	-	5	915	c.796A>G	c.(796-798)Atg>Gtg	p.M266V	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.M88V	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	266	DBB.					cytoplasm|plasma membrane		p.M266V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATTTCTTCCATGTCAGTATAA	0.398000													3	39					0	0	0.115264	0	0
CCDC181	57821	broad.mit.edu	37	1	169366528	169366528	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:169366528C>A	ENST00000545005.1	-	6	1821	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	CCDC181_ENST00000367806.3_Missense_Mutation_p.E439D|CCDC181_ENST00000367805.3_Missense_Mutation_p.E438D					coiled-coil domain containing 181																		ATAAACATTCCTCTTGCTTTC	0.418000													16	51					3.41278e-10	4.40959e-10	0.160694	1	0
GABRG1	2565	broad.mit.edu	37	4	46053559	46053559	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:46053559G>C	ENST00000295452.4	-	8	1180	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	338					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GAAACAAACAGAAACAAAGAG	0.378000													31	111					0	0	0.163468	0	0
KCNV1	27012	broad.mit.edu	37	8	110984867	110984867	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:110984867C>A	ENST00000524391.1	-	3	1643	c.611G>T	c.(610-612)gGa>gTa	p.G204V	KCNV1_ENST00000297404.1_Missense_Mutation_p.G204V			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	204						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGTGGAAGATCCAGGTTTCTC	0.502000													20	41					6.44725e-10	8.24869e-10	0.069288	1	0
DST	667	broad.mit.edu	37	6	56457000	56457000	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:56457000T>C	ENST00000370754.5	-	49	12789	c.12790A>G	c.(12790-12792)Agg>Ggg	p.R4264G	DST_ENST00000361203.3_Missense_Mutation_p.R4084G|DST_ENST00000244364.6_Missense_Mutation_p.R1672G|DST_ENST00000312431.6_Missense_Mutation_p.R4084G|DST_ENST00000421834.2_Missense_Mutation_p.R1998G|DST_ENST00000370788.2_Missense_Mutation_p.R1998G|DST_ENST00000446842.2_Missense_Mutation_p.R3760G|DST_ENST00000370769.4_Missense_Mutation_p.R4086G			Q03001	DYST_HUMAN	dystonin	4084					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAATTGCCTTTGAAGATTT	0.443000													7	66					0	0	0.058154	0	0
TMTC3	160418	broad.mit.edu	37	12	88589117	88589117	+	Silent	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:88589117T>C	ENST00000266712.6	+	14	2656	c.2436T>C	c.(2434-2436)aaT>aaC	p.N812N		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	813						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCCATTTGAATATAGTCAGGG	0.343000													22	89					0	0	0.091800	0	0
ZNF674	641339	broad.mit.edu	37	X	46360580	46360580	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:46360580T>A	ENST00000523374.1	-	6	654	c.444A>T	c.(442-444)tcA>tcT	p.S148S	ZNF674_ENST00000414387.2_Silent_p.S142S	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						ACCTTTCCCATGAATAATATT	0.313000													6	31					0	0	0.217242	0	0
SP100	6672	broad.mit.edu	37	2	231338154	231338154	+	Splice_Site	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:231338154G>C	ENST00000264052.5	+	16	1900	c.1546_splice	c.e16+1	p.M515_splice	SP100_ENST00000409112.1_Splice_Site_p.M515_splice|SP100_ENST00000340126.4_Splice_Site_p.M515_splice	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	515					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGACATGATGGGTAAGGCTA	0.468000													41	158					0	0	0.139131	0	0
TULP4	56995	broad.mit.edu	37	6	158923886	158923886	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:158923886C>T	ENST00000367097.3	+	13	4548	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1064					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCGTTGGCCTCCCAGTCCTCC	0.697000													4	19					0	0	0.184627	0	0
ATP13A3	79572	broad.mit.edu	37	3	194175080	194175080	+	Silent	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:194175080T>A	ENST00000439040.1	-	9	1463	c.672A>T	c.(670-672)atA>atT	p.I224I	ATP13A3_ENST00000256031.4_Silent_p.I224I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	224					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGCTCCACAGTATAACACTGA	0.338000													11	29					0	0	0.093190	0	0
ANXA4	307	broad.mit.edu	37	2	70043264	70043264	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:70043264G>A	ENST00000394295.4	+	9	814	c.566G>A	c.(565-567)gGg>gAg	p.G189E	ANXA4_ENST00000409920.1_Missense_Mutation_p.G167E|ANXA4_ENST00000536030.1_Missense_Mutation_p.G105E	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	187					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGAAATGGGGGACAGATGAG	0.443000													9	82					0	0	0.058154	0	0
BMP2K	55589	broad.mit.edu	37	4	79766107	79766107	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:79766107G>T	ENST00000335016.5	+	5	738	c.572G>T	c.(571-573)gGt>gTt	p.G191V	BMP2K_ENST00000502871.1_Missense_Mutation_p.G191V	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	191	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTGAATGATGGTGGGAACTAT	0.264000													6	31					5.18039e-06	5.89143e-06	0.038147	1	0
XKR6	286046	broad.mit.edu	37	8	10756124	10756124	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:10756124C>G	ENST00000416569.2	-	3	1290	c.1264G>C	c.(1264-1266)Gta>Cta	p.V422L	XKR6_ENST00000304437.2_Missense_Mutation_p.V143L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	422						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACGATCCCTACCACCATGTTG	0.498000													30	52					0	0	0.125774	0	0
RXFP3	51289	broad.mit.edu	37	5	33937928	33937928	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:33937928G>T	ENST00000330120.3	+	1	1438	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	361						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTTCAGCCAGGAGTATTTCC	0.602000													9	81					1.76689e-08	2.15495e-08	0.058154	1	0
GABRB1	2560	broad.mit.edu	37	4	47322175	47322175	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:47322175C>G	ENST00000295454.3	+	5	785	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	GABRB1_ENST00000538619.1_Missense_Mutation_p.L95V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	165					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATGATGGATCTTCGAAGATA	0.423000													39	68					0	0	0.104719	0	0
GLRA1	2741	broad.mit.edu	37	5	151271916	151271916	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:151271916C>A	ENST00000274576.4	-	2	432	c.140G>T	c.(139-141)gGg>gTg	p.G47V	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.G47V|GLRA1_ENST00000545569.1_Intron	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	47					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAGGTTCTCCCCATTAGCTT	0.502000													31	92					3.62531e-18	5.33073e-18	0.203993	1	0
KMT2C	58508	broad.mit.edu	37	7	151945112	151945112	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:151945112C>A	ENST00000355193.2	-	14	2625	c.2407G>T	c.(2407-2409)Gct>Tct	p.A803S	KMT2C_ENST00000262189.6_Missense_Mutation_p.A803S					lysine (K)-specific methyltransferase 2C																		GAACTAAGAGCTGAAGGGTAA	0.423000													16	547					2.48551e-13	3.38756e-13	0.160694	1	0
VANGL2	57216	broad.mit.edu	37	1	160395114	160395114	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:160395114G>T	ENST00000368061.2	+	8	1986	c.1512G>T	c.(1510-1512)gtG>gtT	p.V504V		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	504					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGAATTTGTGGATCCCAAGT	0.537000													55	193					2.43698e-19	3.61393e-19	0.139131	1	0
ATP11A	23250	broad.mit.edu	37	13	113473723	113473723	+	Splice_Site	SNP	T	T	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:113473723T>G	ENST00000487903.1	+	7	762		c.e7+2		ATP11A_ENST00000375630.2_Splice_Site|ATP11A_ENST00000283558.8_Splice_Site|ATP11A_ENST00000375645.3_Splice_Site			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCTCTACAAGTAAGCGGGAGC	0.527000													16	29					0	0	0.160694	0	0
DNAH1	25981	broad.mit.edu	37	3	52433737	52433737	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:52433737C>T	ENST00000420323.2	+	77	12879	c.12618C>T	c.(12616-12618)cgC>cgT	p.R4206R		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4271					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)		CACCCAACCGCAAGGCCCAGG	0.602000													10	23					0	0	0.069234	0	0
CASP2	835	broad.mit.edu	37	7	142997119	142997119	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:142997119A>T	ENST00000310447.5	+	7	1092	c.851A>T	c.(850-852)tAt>tTt	p.Y284F	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	284					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGCGCCATCTATGGTGTGGAT	0.547000											OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	89					0	0	0.175082	0	0
HDAC9	9734	broad.mit.edu	37	7	19015566	19015566	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:19015566G>T	ENST00000406451.3	+	25	3301	c.3151G>T	c.(3151-3153)Gaa>Taa	p.E1051*	HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E1010*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E1054*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTTTGCTCAGGAAGACAGCAG	0.527000													15	92					2.23348e-06	2.59084e-06	0.146539	1	0
GIPR	2696	broad.mit.edu	37	19	46178075	46178075	+	Silent	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:46178075G>C	ENST00000590918.1	+	7	723	c.624G>C	c.(622-624)ctG>ctC	p.L208L	GIPR_ENST00000304207.8_Silent_p.L172L|GIPR_ENST00000263281.3_Silent_p.L208L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	208					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCTTGCGCTGTGGAACCAGG	0.577000													8	17					0	0	0.038147	0	0
TIMP1	7076	broad.mit.edu	37	X	47444636	47444636	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:47444636C>A	ENST00000377018.2	+	3	569	c.5C>A	c.(4-6)cCg>cAg	p.P2Q	SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377017.1_Silent_p.A14A|TIMP1_ENST00000218388.4_Silent_p.A78A|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_Silent_p.A78A			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						TAGGGGATGCCGCTGACATCC	0.532000													5	20					5.9392e-07	7.01417e-07	0.217242	1	0
SERPINE2	5270	broad.mit.edu	37	2	224866446	224866446	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:224866446T>A	ENST00000409840.3	-	3	832	c.172A>T	c.(172-174)Att>Ttt	p.I58F	SERPINE2_ENST00000447280.2_Missense_Mutation_p.I70F|SERPINE2_ENST00000409304.1_Missense_Mutation_p.I58F|SERPINE2_ENST00000258405.4_Missense_Mutation_p.I58F			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	58					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCGACGCAATCCCATGGGGA	0.562000													12	110					0	0	0.105934	0	0
PLD2	5338	broad.mit.edu	37	17	4714202	4714202	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:4714202G>A	ENST00000263088.6	+	10	1097	c.966G>A	c.(964-966)cgG>cgA	p.R322R	PLD2_ENST00000572940.1_Silent_p.R322R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	322					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGCTGCACCGGCATGACAGCT	0.617000													3	27					0	0	0.115264	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93135316	93135316	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:93135316T>C	ENST00000344636.3	+	4	333	c.149T>C	c.(148-150)gTa>gCa	p.V50A	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.V50A	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	50	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAGGACTATGTAGACGCTTCT	0.438000													5	159					0	0	0.217242	0	0
FAM47B	170062	broad.mit.edu	37	X	34961280	34961280	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:34961280A>T	ENST00000329357.5	+	1	368	c.332A>T	c.(331-333)cAg>cTg	p.Q111L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	111										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCGCCAGTACAGCCAGCACGG	0.532000													42	85					0	0	0.124865	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181645	57181645	+	Silent	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:57181645C>G	ENST00000504228.1	+	6	2082	c.1977C>G	c.(1975-1977)ccC>ccG	p.P659P	KIAA1211_ENST00000541073.1_Silent_p.P652P|KIAA1211_ENST00000264229.6_Silent_p.P659P			Q6ZU35	K1211_HUMAN	KIAA1211	659										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGAGTCTCCCAGCAGCGCGT	0.677000													17	44					0	0	0.160694	0	0
GABRB3	2562	broad.mit.edu	37	15	26828544	26828544	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:26828544G>A	ENST00000541819.2	-	6	749	c.647C>T	c.(646-648)gCa>gTa	p.A216V	GABRB3_ENST00000299267.4_Missense_Mutation_p.A160V|GABRB3_ENST00000545868.1_Missense_Mutation_p.A75V|GABRB3_ENST00000311550.5_Missense_Mutation_p.A160V|GABRB3_ENST00000400188.3_Missense_Mutation_p.A89V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	160					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATCATGCATGCTGCTGTCGT	0.463000													9	51					0	0	0.069234	0	0
CXCL12	6387	broad.mit.edu	37	10	44871411	44871411	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:44871411C>A	ENST00000374426.2	-	4	373	c.336G>T	c.(334-336)aaG>aaT	p.K112N	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCTGGGCAGCCTTTCTCTTCT	0.423000													27	45					7.38237e-10	9.422e-10	0.116897	1	0
GP2	2813	broad.mit.edu	37	16	20331682	20331682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:20331682G>A	ENST00000302555.5	-	5	909	c.760C>T	c.(760-762)Cga>Tga	p.R254*	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Nonsense_Mutation_p.R110*|GP2_ENST00000381362.4_Nonsense_Mutation_p.R257*|GP2_ENST00000341642.5_Nonsense_Mutation_p.R107*			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	257	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTGGGTCTCGCAGGTAGGCA	0.582000													26	69					0	0	0.116897	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568663	46568663	+	Splice_Site	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:46568663G>A	ENST00000458649.2	-	4	796	c.378_splice	c.e4+1	p.H126_splice	AMBRA1_ENST00000314845.3_Splice_Site_p.H126_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.H126_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.H126_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.H126_splice|AMBRA1_ENST00000426438.1_Splice_Site_p.H126_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.H126_splice			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	126					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AAATACTCACGTGTAAATCCC	0.468000													22	113					0	0	0.069288	0	0
CPS1	1373	broad.mit.edu	37	2	211464237	211464237	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:211464237C>A	ENST00000233072.5	+	14	1697	c.1501C>A	c.(1501-1503)Cca>Aca	p.P501T	CPS1_ENST00000451903.2_Missense_Mutation_p.P50T|CPS1_ENST00000430249.2_Missense_Mutation_p.P507T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	501					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCAGAACAGCCAGATGGGTT	0.473000													15	95					1.52009e-12	2.05036e-12	0.132662	1	0
TRAV10	28676	broad.mit.edu	37	14	22293694	22293694	+	RNA	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:22293694T>A	ENST00000390432.2	+	0	59																											CTGACGACCTTCTTGGTGATT	0.338000													5	140					0	0	0.184627	0	0
CACNA1C	775	broad.mit.edu	37	12	2566852	2566852	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:2566852G>A	ENST00000399655.1	+	5	1002	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	CACNA1C_ENST00000399606.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R246Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R246Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	246					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCCCCCTGCGGCTGGTGTCC	0.572000													5	120					0	0	0.217242	0	0
ZNF610	162963	broad.mit.edu	37	19	52856958	52856958	+	Silent	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:52856958G>T	ENST00000601151.1	+	4	539	c.87G>T	c.(85-87)gtG>gtT	p.V29V	ZNF610_ENST00000327920.8_Silent_p.V29V|ZNF610_ENST00000321287.8_Silent_p.V29V|ZNF610_ENST00000403906.3_Silent_p.V29V	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCATGGACGTGGCCATCGAAT	0.423000													26	69					4.22769e-11	5.57287e-11	0.116897	1	0
KIAA1432	57589	broad.mit.edu	37	9	5765719	5765719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:5765719C>T	ENST00000414202.2	+	21	3249	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.Q1020*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.Q941*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.Q941*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.Q904*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1020						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CAGTTTATCCCAGTCAGCTGA	0.398000													30	170					0	0	0.134883	0	0
TTN	7273	broad.mit.edu	37	2	179604301	179604301	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:179604301A>T	ENST00000589042.1	-	48	13883	c.13659T>A	c.(13657-13659)acT>acA	p.T4553T	TTN_ENST00000359218.5_Silent_p.T4315T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.T4190T|TTN_ENST00000591111.1_Silent_p.T4236T|TTN_ENST00000342175.6_Silent_p.T4382T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4236	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACCCCTTTAGTGACAGGTG	0.413000													28	115					0	0	0.134883	0	0
FNDC1	84624	broad.mit.edu	37	6	159688877	159688877	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:159688877G>A	ENST00000297267.9	+	22	5688	c.5488G>A	c.(5488-5490)Gac>Aac	p.D1830N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D1767N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1830						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGAGGTGAAGACCATTGCCA	0.443000													4	66					0	0	0.150653	0	0
GJB4	127534	broad.mit.edu	37	1	35226919	35226919	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:35226919C>A	ENST00000339480.1	+	2	434	c.64C>A	c.(64-66)Cgc>Agc	p.R22S		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	22					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGTGCTGAGCCGCATCTGGCT	0.572000													42	43					5.20006e-24	7.93693e-24	0.124865	1	0
AFTPH	54812	broad.mit.edu	37	2	64800103	64800103	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:64800103A>G	ENST00000422803.1	+	6	2609	c.2295A>G	c.(2293-2295)gaA>gaG	p.E765E	AFTPH_ENST00000409933.1_Silent_p.E765E|AFTPH_ENST00000238855.7_Silent_p.E765E|AFTPH_ENST00000238856.4_Silent_p.E765E|AFTPH_ENST00000409183.1_Silent_p.E396E|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	765					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CCACCAAGGAACCACTGAAAC	0.438000													14	320					0	0	0.119110	0	0
RBM26	64062	broad.mit.edu	37	13	79942937	79942937	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:79942937G>A	ENST00000438737.2	-	6	1263	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	RBM26_ENST00000438724.1_Missense_Mutation_p.H275Y|RBM26_ENST00000267229.7_Missense_Mutation_p.H275Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	275					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TGGTCTTCATGAAATTCAGAC	0.418000													7	93					0	0	0.038147	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756235	94756235	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:94756235A>T	ENST00000554723.1	-	2	1234	c.816T>A	c.(814-816)ctT>ctA	p.L272L	SERPINA10_ENST00000554173.1_Silent_p.L232L|SERPINA10_ENST00000261994.4_Silent_p.L232L|SERPINA10_ENST00000393096.1_Silent_p.L232L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	232					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGTAATCCACAAGAATTAATT	0.423000													11	36					0	0	0.093190	0	0
OR6K2	81448	broad.mit.edu	37	1	158670207	158670207	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:158670207G>T	ENST00000359610.2	-	1	279	c.236C>A	c.(235-237)cCa>cAa	p.P79Q		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAGCATCTTTGGGATTGTGGC	0.458000													11	439					3.07112e-06	3.5389e-06	0.080935	1	0
CACNA1E	777	broad.mit.edu	37	1	181546994	181546994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:181546994C>A	ENST00000526775.1	+	4	770	c.605C>A	c.(604-606)tCa>tAa	p.S202*	CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.S153*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.S202*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.S153*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.S202*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.S202*|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	202					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAGCTCGTGTCAGGGATACCT	0.532000													6	50					0.0215528	0.0222783	0.217242	1	0
NAALADL2	254827	broad.mit.edu	37	3	175520847	175520847	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:175520847G>T	ENST00000454872.1	+	14	2372	c.2244G>T	c.(2242-2244)gaG>gaT	p.E748D		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	748					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TACTTATAGAGGCTTGGGAAC	0.393000													14	35					0.0167234	0.0173206	0.105934	1	0
MDH1B	130752	broad.mit.edu	37	2	207615683	207615683	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:207615683G>T	ENST00000374412.3	-	6	1302	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	MDH1B_ENST00000454776.2_Missense_Mutation_p.P343T|MDH1B_ENST00000449792.1_Missense_Mutation_p.P245T|MDH1B_ENST00000392214.2_Intron	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	343					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTTAAAACAGGGCGTGAATAA	0.328000													5	67					0.184627	0.187866	0.184627	1	0
FAM47A	158724	broad.mit.edu	37	X	34148327	34148327	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:34148327C>A	ENST00000346193.3	-	1	2120	c.2069G>T	c.(2068-2070)cGt>cTt	p.R690L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	690										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CATCTTCACACGCTGTGCGGT	0.428000													23	72					1.64293e-13	2.26881e-13	0.083992	1	0
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:5129756A>G	ENST00000588623.1	+	10	1676	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000262374.5_Silent_p.E303E			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443000													33	56					0	0	0.139131	0	0
HACE1	57531	broad.mit.edu	37	6	105192075	105192075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:105192075G>A	ENST00000262903.4	-	22	2749	c.2473C>T	c.(2473-2475)Caa>Taa	p.Q825*	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Nonsense_Mutation_p.Q610*	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	825	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTCTCCTCTTGAGTAATGTCT	0.333000													20	71					0	0	0.083992	0	0
PABPC5	140886	broad.mit.edu	37	X	90691483	90691483	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:90691483C>A	ENST00000312600.3	+	2	1121	c.907C>A	c.(907-909)Cct>Act	p.P303T	PABPC5_ENST00000373105.1_Missense_Mutation_p.P139T	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	303	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCCAGGGGTGCCTATCTATAT	0.448000													9	59					0.000442599	0.000477349	0.058154	1	0
SLC17A7	57030	broad.mit.edu	37	19	49934329	49934329	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:49934329C>A	ENST00000221485.3	-	11	1503	c.1332G>T	c.(1330-1332)gtG>gtT	p.V444V	SLC17A7_ENST00000600601.1_Silent_p.V377V|SLC17A7_ENST00000543531.1_Silent_p.V432V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	444					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACAGTGTGCCCACGCCGTTGG	0.622000													20	54					1.40151e-16	2.02096e-16	0.219247	1	0
OR2L2	26246	broad.mit.edu	37	1	248202413	248202413	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:248202413C>A	ENST00000366479.2	+	1	940	c.844C>A	c.(844-846)Cca>Aca	p.P282T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCCTCACCCCAATGCTCAA	0.463000													22	249					1.66031e-10	2.15057e-10	0.091800	1	0
EBI3	10148	broad.mit.edu	37	19	4234679	4234679	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:4234679C>A	ENST00000221847.5	+	4	448	c.395C>A	c.(394-396)cCa>cAa	p.P132Q		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	132	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGACCCTCCAGAAGGCGTG	0.562000													6	72					0.00116845	0.00123218	0.217242	1	0
RGAG1	57529	broad.mit.edu	37	X	109698546	109698546	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:109698546G>T	ENST00000465301.2	+	4	4410	c.4164G>T	c.(4162-4164)aaG>aaT	p.K1388N	RGAG1_ENST00000540313.1_Missense_Mutation_p.K1388N	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1388										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATACCAACAAGTAAAACTCCA	0.463000													29	199					2.12542e-12	2.84479e-12	0.116897	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951385	119951385	+	Silent	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:119951385A>G	ENST00000307142.4	+	4	1651	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.P485P|SYNPO2_ENST00000434046.2_Silent_p.P485P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	485						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATGTTACCAGACACCACAG	0.488000													10	41					0	0	0.069234	0	0
ATG2A	23130	broad.mit.edu	37	11	64664023	64664023	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:64664023G>A	ENST00000421419.2	-	39	5458	c.5344C>T	c.(5344-5346)Cgg>Tgg	p.R1782W	ATG2A_ENST00000377264.3_Missense_Mutation_p.R1780W			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1780							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGCAGCCCCCGCATGAGGCGG	0.642000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	23					0	0	0.217242	0	0
OR1S2	219958	broad.mit.edu	37	11	57971021	57971021	+	Silent	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:57971021C>G	ENST00000302592.6	-	1	632	c.633G>C	c.(631-633)gtG>gtC	p.V211V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAATAAACAACACAAGCTCAT	0.443000													16	107					0	0	0.219247	0	0
NLRP10	338322	broad.mit.edu	37	11	7981770	7981770	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:7981770G>C	ENST00000328600.2	-	2	1550	c.1389C>G	c.(1387-1389)agC>agG	p.S463R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	463	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTGGCGGAAGCTGTAGAACT	0.502000													21	84					0	0	0.069288	0	0
OR52D1	390066	broad.mit.edu	37	11	5510138	5510138	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:5510138C>A	ENST00000322641.5	+	1	224	c.202C>A	c.(202-204)Ctt>Att	p.L68I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTCTGCCTTCTCTCACT	0.512000													32	91					1.08312e-15	1.54057e-15	0.144211	1	0
LINC01410	103352539	broad.mit.edu	37	9	66466232	66466232	+	RNA	SNP	C	C	G	rs147586413	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:66466232C>G	ENST00000424345.1	+	0	865																											ggagagagagccggacagact	0.453000													3	15					0	0	0.115264	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745336	37745336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:37745336G>T	ENST00000539465.1	+	16	3900	c.3307G>T	c.(3307-3309)Gag>Tag	p.E1103*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E1103*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1103						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TACAAAGGAAGAGCCACAAGG	0.428000													5	58					1.23904e-05	1.38794e-05	0.184627	1	0
ZNF28	7576	broad.mit.edu	37	19	53303431	53303431	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:53303431C>A	ENST00000438150.2	-	2	2401	c.1508G>T	c.(1507-1509)tGt>tTt	p.C503F	ZNF28_ENST00000360272.4_Missense_Mutation_p.C503F|ZNF28_ENST00000457749.2_Missense_Mutation_p.C556F|ZNF28_ENST00000414252.2_Missense_Mutation_p.C503F			P17035	ZNF28_HUMAN	zinc finger protein 28	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AACTTTCTCACATTCTTCACA	0.388000													16	52					3.45872e-05	3.83323e-05	0.146539	1	0
LTA	4049	broad.mit.edu	37	6	31540548	31540548	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:31540548C>A	ENST00000454783.1	+	2	287	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	LTA_ENST00000418386.2_Missense_Mutation_p.P10Q	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	10					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTCTTCCTCCCAAGGGTGTGT	0.637000													4	68					0.000602214	0.000646823	0.184627	1	0
ZNF772	400720	broad.mit.edu	37	19	57985635	57985635	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:57985635C>A	ENST00000343280.4	-	5	737	c.477G>T	c.(475-477)ttG>ttT	p.L159F	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.L47F|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.L118F	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGTGCTCAGCCAAGTGCAAAA	0.507000													34	44					1.30015e-28	2.00792e-28	0.214465	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457224	45457224	+	RNA	SNP	A	A	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:45457224A>G	ENST00000548424.1	+	0	448																											CTTATAGTCAATCAATGCTGG	0.413000													7	48					0	0	0.029380	0	0
CCDC22	28952	broad.mit.edu	37	X	49093592	49093592	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:49093592C>T	ENST00000376227.3	+	2	260	c.90C>T	c.(88-90)acC>acT	p.T30T	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	30										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCGCCTTCACCACTGAGCTGG	0.612000													22	31					0	0	0.108266	0	0
TECRL	253017	broad.mit.edu	37	4	65180447	65180447	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:65180447A>T	ENST00000381210.3	-	5	580	c.470T>A	c.(469-471)aTa>aAa	p.I157K	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.I157K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	157					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAGGAGGTATATTAGCAGAGG	0.353000													9	34					0	0	0.093190	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131785526	131785526	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:131785526G>A	ENST00000392953.3	+	5	955	c.436G>A	c.(436-438)Gat>Aat	p.D146N	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.D146N|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.D75N|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.D146N|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.D146N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	146					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCCATGCCTGATGGAGCTCT	0.627000													5	11					0	0	0.184627	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137750	40137750	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:40137750C>T	ENST00000278198.2	-	2	2056	c.93G>A	c.(91-93)ctG>ctA	p.L31L	LRRC4C_ENST00000528697.1_Silent_p.L31L|LRRC4C_ENST00000530763.1_Silent_p.L31L|LRRC4C_ENST00000527150.1_Silent_p.L31L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	31					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTGAAGAGCCAGCAGCACCA	0.502000													17	25					0	0	0.189662	0	0
DOCK11	139818	broad.mit.edu	37	X	117749590	117749590	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:117749590C>T	ENST00000276204.6	+	30	3282	c.3208C>T	c.(3208-3210)Ctg>Ttg	p.L1070L	DOCK11_ENST00000276202.7_Silent_p.L1070L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1070					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTTGAATTTCTGCAAACAAT	0.353000													11	41					0	0	0.080935	0	0
FAM193A	8603	broad.mit.edu	37	4	2701538	2701538	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:2701538G>T	ENST00000324666.5	+	17	3117	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H	FAM193A_ENST00000502458.1_Missense_Mutation_p.Q944H|FAM193A_ENST00000382839.3_Missense_Mutation_p.Q922H|FAM193A_ENST00000545951.1_Missense_Mutation_p.Q922H|FAM193A_ENST00000505311.1_Missense_Mutation_p.Q922H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	922										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGAATTTCAGCGGCTTCAGG	0.542000													31	35					1.15183e-24	1.7684e-24	0.111260	1	0
ZAN	7455	broad.mit.edu	37	7	100373017	100373017	+	RNA	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:100373017C>T	ENST00000542585.1	+	0	5992				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATTCTATCCCGGACGCCT	0.567000													5	59					0	0	0.217242	0	0
DZIP1L	199221	broad.mit.edu	37	3	137799408	137799408	+	Splice_Site	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:137799408C>A	ENST00000327532.2	-	10	1651		c.e10+1		DZIP1L_ENST00000488595.1_Splice_Site|DZIP1L_ENST00000469243.1_Splice_Site	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like							intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TAAGGTCCCACCTTCCTCTGG	0.517000													14	49					1.56452e-12	2.10485e-12	0.189662	1	0
VPS13B	157680	broad.mit.edu	37	8	100832296	100832296	+	Silent	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:100832296G>A	ENST00000358544.2	+	49	9126	c.9015G>A	c.(9013-9015)gaG>gaA	p.E3005E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E2980E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3005					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGAAGGAGAGAAAATTGTTC	0.373000													7	204					0	0	0.029380	0	0
CNGB3	54714	broad.mit.edu	37	8	87656851	87656851	+	Splice_Site	SNP	T	T	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:87656851T>A	ENST00000320005.5	-	9	1101	c.1055_splice	c.e9+1	p.R352_splice		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	352					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATACTTTACCTGTAGATATAT	0.343000													10	39					0	0	0.080935	0	0
PTPN11	5781	broad.mit.edu	37	12	112939970	112939970	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:112939970A>T	ENST00000351677.2	+	14	1820	c.1622A>T	c.(1621-1623)gAa>gTa	p.E541V		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	545					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAAGGGCACGAATATACAAAT	0.443000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				17	72					0	0	0.189662	0	0
MAVS	57506	broad.mit.edu	37	20	3838457	3838457	+	Splice_Site	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:3838457G>C	ENST00000428216.2	+	3	420		c.e3+1		MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TACCAGCCTCGTGAGCGTCCT	0.622000													10	48					0	0	0.093190	0	0
LPAL2	80350	broad.mit.edu	37	6	160903810	160903810	+	RNA	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:160903810C>A	ENST00000335388.5	-	0	1073					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGTCCATTACCGTGGTAGCAC	0.478000													25	168					7.33532e-06	8.28796e-06	0.091800	1	0
FBN2	2201	broad.mit.edu	37	5	127670448	127670448	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:127670448C>A	ENST00000508053.1	-	37	5036	c.4062G>T	c.(4060-4062)ctG>ctT	p.L1354L	FBN2_ENST00000507835.1_Silent_p.L204L|FBN2_ENST00000262464.4_Silent_p.L1354L|FBN2_ENST00000508989.1_Silent_p.L1321L			P35556	FBN2_HUMAN	fibrillin 2	1354	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.L1354L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGAGTAACCCAGCTGACAGT	0.408000													4	95					0.00909568	0.00947694	0.150653	1	0
JAG1	182	broad.mit.edu	37	20	10629340	10629340	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:10629340G>C	ENST00000254958.5	-	12	1941	c.1426C>G	c.(1426-1428)Cca>Gca	p.P476A	JAG1_ENST00000423891.2_Missense_Mutation_p.P317A	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	476	EGF-like 7; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TAGCCAGGTGGACAGATACAG	0.458000									Alagille Syndrome				3	59					0	0	0.115264	0	0
CFH	3075	broad.mit.edu	37	1	196684731	196684731	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:196684731G>C	ENST00000367429.4	+	11	1768	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	510					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAATCTTGTGATATCCCAGT	0.308000													20	79					0	0	0.189662	0	0
TBC1D23	55773	broad.mit.edu	37	3	100014011	100014011	+	Silent	SNP	A	A	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:100014011A>T	ENST00000394144.4	+	6	688	c.681A>T	c.(679-681)ccA>ccT	p.P227P	TBC1D23_ENST00000344949.5_Silent_p.P227P|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.P90P	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	227						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAGCAGATCCATTTTTTATTT	0.333000													15	35					0	0	0.160694	0	0
ASPM	259266	broad.mit.edu	37	1	197071122	197071122	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:197071122G>A	ENST00000367409.4	-	18	7515	c.7259C>T	c.(7258-7260)tCa>tTa	p.S2420L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2420	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTAATGATCTAAACCT	0.393000													16	152					0	0	0.146539	0	0
METTL21A	151194	broad.mit.edu	37	2	208478080	208478080	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:208478080G>C	ENST00000411432.1	-	4	563	c.347C>G	c.(346-348)aCt>aGt	p.T116S	METTL21A_ENST00000406927.2_Missense_Mutation_p.T116S|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.T116S|METTL21A_ENST00000426075.1_Missense_Mutation_p.T116S|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.T116S|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000272839.3_Missense_Mutation_p.T134S	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	116						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						AACAGTTTTAGTTTGGATATG	0.378000													21	36					0	0	0.234183	0	0
NRXN3	9369	broad.mit.edu	37	14	80130240	80130240	+	Silent	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:80130240C>A	ENST00000281127.7	+	3	1428	c.549C>A	c.(547-549)ggC>ggA	p.G183G	NRXN3_ENST00000557594.1_Silent_p.G183G|NRXN3_ENST00000335750.5_Silent_p.G815G|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Silent_p.G815G|NRXN3_ENST00000428277.2_Silent_p.G183G|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	183	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAACGGCGGCAACGCCACCC	0.488000													10	44					0.00136819	0.00143991	0.093190	1	0
WDR17	116966	broad.mit.edu	37	4	177041039	177041039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:177041039G>A	ENST00000393643.2	+	4	581	c.329G>A	c.(328-330)tGg>tAg	p.W110*	WDR17_ENST00000508596.1_Nonsense_Mutation_p.W110*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.W134*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.W134*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	134										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTCTTAGTTGGTGCTGGAAT	0.408000													19	83					0	0	0.204396	0	0
PTGS2	5743	broad.mit.edu	37	1	186646874	186646874	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:186646874C>G	ENST00000367468.5	-	5	682	c.546G>C	c.(544-546)atG>atC	p.M182I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	182					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ATGCAAACATCATGTTTGAGC	0.448000													3	68					0	0	0.115264	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765146	77765146	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:77765146C>A	ENST00000521891.2	+	10	6437	c.5989C>A	c.(5989-5991)Cca>Aca	p.P1997T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1952T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1952T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1971T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1952	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAATTTCTCCATCTTCTCC	0.507000										HNSCC(33;0.089)			20	78					1.00905e-13	1.40459e-13	0.204396	1	0
TRPV3	162514	broad.mit.edu	37	17	3436155	3436155	+	Silent	SNP	C	C	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:3436155C>T	ENST00000301365.4	-	8	992	c.861G>A	c.(859-861)acG>acA	p.T287T	TRPV3_ENST00000572519.1_Silent_p.T287T|TRPV3_ENST00000576742.1_Silent_p.T287T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	287						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGGTGATGTCCGTCTGCTCGT	0.607000													3	47					0	0	0.115264	0	0
WWC3	55841	broad.mit.edu	37	X	10085245	10085245	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:10085245C>A	ENST00000380861.4	+	11	1537	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	WWC3_ENST00000454666.1_Missense_Mutation_p.S382R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	382	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGGCCTCCAGCCGGGGCTCCC	0.662000													5	19					2.0095e-06	2.34142e-06	0.029380	1	0
PACSIN2	11252	broad.mit.edu	37	22	43272936	43272936	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr22:43272936G>A	ENST00000263246.3	-	9	1310	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.T370M|PACSIN2_ENST00000403744.3_Missense_Mutation_p.T370M|PACSIN2_ENST00000407585.1_Intron	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	370					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GGTGCTGCCCGTGTCGTCCTC	0.562000													12	27					0	0	0.105934	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733253	56733253	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:56733253C>A	ENST00000587340.1	-	7	1877	c.1182G>T	c.(1180-1182)atG>atT	p.M394I	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M394I|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.M248I|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M393I|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.M277I			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	394					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAATAAGCTGCATGAAGCGCT	0.502000													3	41					2.56e-06	2.96302e-06	0.150653	1	0
DAB1	1600	broad.mit.edu	37	1	57480680	57480680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:57480680delT	ENST00000371236.2	-	12	1583	c.1320delA	c.(1318-1320)tcfs	p.S440fs	DAB1_ENST00000371234.4_Frame_Shift_Del_p.S440fs|DAB1_ENST00000439789.2_Frame_Shift_Del_p.S354fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.S422fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.S438fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Frame_Shift_Del_p.S473fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	473					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGAAGGCCTCTGAGGTACAGG	0.542													20	23	---	---	---	---					
LOC101926964	101926964	broad.mit.edu	37	1	61267825	61267825	+	RNA	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:61267825delG	ENST00000423403.1	-	0	249																											gggcgggggtgggggggttgt	0.438													2	4	---	---	---	---					
LINC01362	103283057	broad.mit.edu	37	1	83549898	83549899	+	RNA	DEL	AC	AC	-	rs10564021		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:83549898_83549899delAC	ENST00000452901.1	+	0	1140																											TAACAACAAAACACATAATACC	0.337													2	4	---	---	---	---					
ABCA4	24	broad.mit.edu	37	1	94495002	94495003	+	Splice_Site	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:94495002_94495003insG	ENST00000370225.3	-	30	4623_4624	c.4539_splice	c.e30+1	p.E1513_splice		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1513			Q -> R (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCAGGTACCTGGGGGGGCGGG	0.624													3	5	---	---	---	---					
LINC01057	101928079	broad.mit.edu	37	1	95208766	95208767	+	RNA	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:95208766_95208767insC	ENST00000452922.1	-	0	326																											ACCAGCTACTGCCCCCCTCACA	0.500													4	8	---	---	---	---					
LOC101928241	101928241	broad.mit.edu	37	1	96751506	96751507	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:96751506_96751507insT	ENST00000435311.1	-	0	312																											ggtactgggcatttttttggtt	0.426													2	4	---	---	---	---					
RP5-965F6.2	0	broad.mit.edu	37	1	112828763	112828764	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:112828763_112828764insA	ENST00000427290.1	-	0	167																											CAAAAACAAACAAAAAAAAAGA	0.421													2	4	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	143955026	143955027	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:143955026_143955027insT	ENST00000467933.1	+	0	915																											AAGAAAAGACATTTTTTTTTTT	0.361													3	6	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	143982491	143982491	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:143982491delC	ENST00000467933.1	+	0	915																											TTCTGGCCCTCCTGAAACAGG	0.522													4	9	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	144007216	144007217	+	RNA	INS	-	-	A	rs113349318		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:144007216_144007217insA	ENST00000467933.1	+	0	915																											catgcaccacccccccagctaa	0.540													5	9	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145107317	145107318	+	RNA	DEL	AA	AA	-	rs3977179		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:145107317_145107318delAA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ttctgAATATAAGTTTTGCTTG	0.297													4	6	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145561840	145561841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:145561840_145561841insG	ENST00000355594.4	+	10	1615_1616	c.1528_1529insG	c.(1528-1530)gggfs	p.G510fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGCTGCCCGGGGGGCTTTG	0.629													9	212	---	---	---	---					
SPRR2D	6703	broad.mit.edu	37	1	153012733	153012734	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:153012733_153012734insG	ENST00000368757.1	-	2	369_370	c.89_90insC	c.(88-90)caafs	p.Q30fs	SPRR2D_ENST00000360379.3_Frame_Shift_Ins_p.Q30fs|SPRR2D_ENST00000368758.3_Frame_Shift_Ins_p.Q30fs|SPRR2D_ENST00000368756.1_Frame_Shift_Ins_p.Q30fs			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.619													8	419	---	---	---	---					
LOC101928009	101928009	broad.mit.edu	37	1	153150345	153150345	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:153150345delA	ENST00000427145.1	+	0	656																											taagtcctccaaaaaaaaaag	0.299													3	4	---	---	---	---					
DCST2	127579	broad.mit.edu	37	1	154991025	154991026	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:154991025_154991026insG	ENST00000368424.3	-	15	2374_2375	c.2316_2317insC	c.(2314-2319)ccaatafs	p.I773fs		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	773						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGGTTTATTTGGGGGGTGGGT	0.525													8	418	---	---	---	---					
RP11-276E17.2	0	broad.mit.edu	37	1	166451755	166451756	+	RNA	INS	-	-	AAA	rs71817524		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:166451755_166451756insAAA	ENST00000426519.1	-	0	179																											TCAGGAATGCTaaaaaaaaaaa	0.322													3	4	---	---	---	---					
RP1-15D23.2	0	broad.mit.edu	37	1	172757074	172757074	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:172757074delA	ENST00000432694.1	+	0	223																											gcttgaaaccaaacagcactg	0.547													2	4	---	---	---	---					
RP1-35C21.2	0	broad.mit.edu	37	1	177463069	177463070	+	RNA	INS	-	-	ACAC	rs140742918	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:177463069_177463070insACAC	ENST00000438575.1	-	0	296																											tatgtgtgtgtacacacacaca	0.302													6	4	---	---	---	---					
RP11-373J16.1	0	broad.mit.edu	37	1	188923917	188923918	+	RNA	INS	-	-	A	rs141529909	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:188923917_188923918insA	ENST00000445072.1	+	0	239																											gaaggagacagaaaaaaaaaca	0.342													2	4	---	---	---	---					
RP11-541F9.2	0	broad.mit.edu	37	1	191904040	191904040	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:191904040delA	ENST00000430776.1	+	0	206																											aaaaaattttaaaaaagtaat	0.239													2	4	---	---	---	---					
MIR181A1HG	100131234	broad.mit.edu	37	1	198784915	198784916	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:198784915_198784916insA	ENST00000412162.1	-	0	191																											atggcaaaaagaaaaaaaaagg	0.366													2	4	---	---	---	---					
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	G	-	rs4915234	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:201489731delG	ENST00000441932.1	+	0	1901				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAAAAaaaaagaaagaaagct	0.423													5	9	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													7	366	---	---	---	---					
RP11-400N13.1	0	broad.mit.edu	37	1	222302682	222302685	+	RNA	DEL	ATTC	ATTC	-	rs113195079		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:222302682_222302685delATTC	ENST00000416510.1	-	0	278																											agcagtatgaattcaggtctatca	0.343													11	5	---	---	---	---					
CTD-2090I13.1	0	broad.mit.edu	37	1	227617129	227617130	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr1:227617129_227617130insA	ENST00000445817.1	+	0	364_365																											CCTTAGAGATGAAAAAAAAAAC	0.480													2	4	---	---	---	---					
LINC01115	339822	broad.mit.edu	37	2	850330	850330	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:850330delC	ENST00000414556.1	-	0	309					NR_033880.1																						ggtggaaaatcagtgaagaag	0.537													6	4	---	---	---	---					
LINC00298	339788	broad.mit.edu	37	2	8100754	8100754	+	RNA	DEL	A	A	-	rs113226396		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:8100754delA	ENST00000426969.1	-	0	312					NR_015405.1																						ctaaaaatacaaaaaaaaatt	0.512													3	3	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12445845	12445845	+	RNA	DEL	C	C	-	rs77609092		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:12445845delC	ENST00000412294.1	+	0	315																											GTGAAGATGTCCCCCCCATGT	0.507													6	3	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12627562	12627562	+	RNA	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:12627562delG	ENST00000412294.1	+	0	412																											tttatgcaaagccttaaacaa	0.443													3	5	---	---	---	---					
AC012593.1	0	broad.mit.edu	37	2	35081874	35081874	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:35081874delT	ENST00000588944.1	+	0	115																											aaataatgggttatgatagca	0.284													2	4	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38656470	38656471	+	RNA	DEL	AC	AC	-	rs72527542		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:38656470_38656471delAC	ENST00000417039.1	-	0	894																											GGAAACTCAAacacacacacac	0.376													4	2	---	---	---	---					
AC079807.4	0	broad.mit.edu	37	2	48321472	48321472	+	RNA	DEL	T	T	-	rs112978398		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:48321472delT	ENST00000447571.1	-	0	240																		p.0?(2)									ACTTCAGAGCTTTTCTTTCTT	0.393													4	2	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	59147837	59147837	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:59147837delT	ENST00000452840.1	+	0	434																											CATCAGATGATTTCCAAGTCC	0.527													2	4	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	59656451	59656451	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:59656451delT	ENST00000606382.1	-	0	433																											acgatctgaattttttttttt	0.423													3	3	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60125156	60125156	+	RNA	DEL	A	A	-	rs11323546		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:60125156delA	ENST00000606382.1	-	0	110																											ACaaaaaaccaaaaaaaaaaa	0.403													3	4	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60163600	60163601	+	RNA	INS	-	-	T	rs141664992	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:60163600_60163601insT	ENST00000606382.1	-	0	110																											AGGAAGGAgtgtgtgtgtgtgt	0.391													2	4	---	---	---	---					
AC007381.2	0	broad.mit.edu	37	2	60616590	60616592	+	RNA	DEL	TTT	TTT	-	rs71876574		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:60616590_60616592delTTT	ENST00000453476.1	-	0	70																											ttcttttttcttttttttttttt	0.429													3	6	---	---	---	---					
SLC9B1P2	389000	broad.mit.edu	37	2	92095670	92095670	+	RNA	DEL	G	G	-	rs112963197		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:92095670delG	ENST00000606405.1	-	0	167																											Aagaacaatagggaatcctcc	0.323													3	5	---	---	---	---					
MAP4K4	9448	broad.mit.edu	37	2	102413810	102413810	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:102413810delG	ENST00000350878.4	+	1	85	c.85delG	c.(85-87)gcfs	p.G29fs	MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000425019.1_Intron			O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	0	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCATGACTCTGGCAGACTTAC	0.517													9	2	---	---	---	---					
TEX41	401014	broad.mit.edu	37	2	145460378	145460379	+	RNA	INS	-	-	TT	rs72096693		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:145460378_145460379insTT	ENST00000445791.1	+	0	124					NR_033870.2																						ctctacttgagttttttttttt	0.371													6	0	---	---	---	---					
LOC101929231	101929231	broad.mit.edu	37	2	150506090	150506092	+	RNA	DEL	CAA	CAA	-	rs76237286		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:150506090_150506092delCAA	ENST00000449714.1	+	0	655																											ccaccaccaccaACAACAACAAC	0.424													6	7	---	---	---	---					
AC016682.1	0	broad.mit.edu	37	2	151040883	151040884	+	RNA	INS	-	-	AC	rs72115557	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:151040883_151040884insAC	ENST00000437118.1	+	0	181																											CCATCTCTCCAacacacacaca	0.446													5	6	---	---	---	---					
AC012501.2	0	broad.mit.edu	37	2	154331744	154331744	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:154331744delA	ENST00000424322.1	-	0	429																											AAATGGATCTAAGGGCTGGAG	0.438													2	4	---	---	---	---					
AC092684.1	0	broad.mit.edu	37	2	164666631	164666632	+	RNA	DEL	TC	TC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:164666631_164666632delTC	ENST00000429636.1	-	0	379																											tgcatttgaatctctgtctcag	0.421													4	4	---	---	---	---					
AC092684.1	0	broad.mit.edu	37	2	164791358	164791359	+	RNA	DEL	AA	AA	-	rs10549088		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:164791358_164791359delAA	ENST00000429636.1	-	0	275																											accctgccttaaaaaaaaaaaa	0.441													3	3	---	---	---	---					
SCN1A	6323	broad.mit.edu	37	2	166943676	166943676	+	RNA	DEL	A	A	-	rs80096365		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:166943676delA	ENST00000447809.2	+	0	148				AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA																							gaactggttgaaaaaaaaaaa	0.483													4	4	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6	---	---	---	---					
AC007319.1	0	broad.mit.edu	37	2	188144515	188144515	+	RNA	DEL	C	C	-	rs13397298		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:188144515delC	ENST00000412276.1	+	0	189				AC007319.1_ENST00000453517.1_RNA																							atttgtatatcttttttcatt	0.343													2	4	---	---	---	---					
LINC01107	151171	broad.mit.edu	37	2	239431047	239431047	+	RNA	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:239431047delG	ENST00000446979.1	-	0	718					NR_037809.1																						CTTTGCAGGTGGGTCCCCTCC	0.597													2	4	---	---	---	---					
LINC01237	101927289	broad.mit.edu	37	2	243006620	243006621	+	RNA	INS	-	-	CG	rs78014906	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr2:243006620_243006621insCG	ENST00000415434.1	+	0	310				AC093642.6_ENST00000446593.1_lincRNA																							acacattcacacacacgcacaa	0.460													3	6	---	---	---	---					
LMCD1-AS1	100288428	broad.mit.edu	37	3	8526275	8526275	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:8526275delT	ENST00000420095.1	-	0	571				LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA	NR_033378.1																						aatcagaccatgtcatacccc	0.448													2	4	---	---	---	---					
SATB1-AS1	101927777	broad.mit.edu	37	3	18876373	18876374	+	RNA	DEL	CA	CA	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:18876373_18876374delCA	ENST00000425799.2	+	0	360																											AATACACGTGCACACACACACA	0.327													2	4	---	---	---	---					
RP11-359D24.1	0	broad.mit.edu	37	3	81933037	81933038	+	RNA	INS	-	-	AA			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:81933037_81933038insAA	ENST00000471614.1	+	0	363																											aacatttggatagactggatta	0.386													3	5	---	---	---	---					
ST3GAL6	10402	broad.mit.edu	37	3	98491720	98491720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:98491720delT	ENST00000394162.1	+	5	698	c.231delT	c.(229-231)ggfs	p.G77fs	ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Frame_Shift_Del_p.G77fs|ST3GAL6_ENST00000468553.1_Frame_Shift_Del_p.G77fs|ST3GAL6_ENST00000462152.1_3'UTR	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	77					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTTGTATGGTAGCGATAAGT	0.393													10	143	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106649618	106649618	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:106649618delA	ENST00000484698.1	-	0	337																											ATAACACAGTACTTGGCCCAA	0.408													6	9	---	---	---	---					
RP11-90K6.1	0	broad.mit.edu	37	3	112033650	112033651	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:112033650_112033651insA	ENST00000498032.1	+	0	237																											agaaggggaagaaaaaaacagg	0.411													2	4	---	---	---	---					
RP11-93K22.13	0	broad.mit.edu	37	3	129812123	129812123	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:129812123delC	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							cagctctctgccatagggtct	0.542													13	8	---	---	---	---					
RP11-23D24.2	0	broad.mit.edu	37	3	153143274	153143274	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:153143274delA	ENST00000493214.2	-	0	381																											gaggcacaacaaaaaaagaga	0.403													2	4	---	---	---	---					
LINC00578	100505566	broad.mit.edu	37	3	177389694	177389694	+	RNA	DEL	A	A	-	rs71300421		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:177389694delA	ENST00000442937.1	+	0	428					NR_047568.1																						ttgtgtctacaaaaaaaaaaa	0.507													2	4	---	---	---	---					
LOC220729	220729	broad.mit.edu	37	3	197341530	197341531	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr3:197341530_197341531insA	ENST00000418868.1	-	0	956					NR_003266.2																						gggagaaaaacaacaaacaaaa	0.376													2	4	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16308918	16308922	+	RNA	DEL	GTCTA	GTCTA	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:16308918_16308922delGTCTA	ENST00000573950.1	+	0	434																											CAGGCTGCTTGTCTAGTGATTCCAG	0.483													3	4	---	---	---	---					
RP11-380P13.1	0	broad.mit.edu	37	4	23597573	23597574	+	RNA	INS	-	-	T	rs146761358	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:23597573_23597574insT	ENST00000514290.1	+	0	117																											aggatacttggttttttttaga	0.332													2	4	---	---	---	---					
LOC101929199	101929199	broad.mit.edu	37	4	27270326	27270326	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:27270326delT	ENST00000512873.1	+	0	360																											CAGTTACCCATTTTTGAGACT	0.418													2	4	---	---	---	---					
RP11-123O22.1	0	broad.mit.edu	37	4	28545673	28545673	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:28545673delC	ENST00000509416.1	+	0	402																											TTCACCTGCACCAAACACTGA	0.323													2	4	---	---	---	---					
LOC101060498	101060498	broad.mit.edu	37	4	40330938	40330940	+	RNA	DEL	AGG	AGG	-	rs72145179		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:40330938_40330940delAGG	ENST00000510551.1	+	0	697																											ggcagaacccaggaggaagaaga	0.557													3	4	---	---	---	---					
LOC100507053	100507053	broad.mit.edu	37	4	100180081	100180082	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:100180081_100180082insT	ENST00000500358.2	+	0	3789				RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000509295.1_RNA	NR_037884.1																						ttttgtttttgtttttttttct	0.327													2	4	---	---	---	---					
RP11-297P16.3	0	broad.mit.edu	37	4	104481505	104481506	+	RNA	INS	-	-	A	rs146704848	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:104481505_104481506insA	ENST00000502936.1	+	0	189				RP11-297P16.3_ENST00000512401.1_RNA																							TAAAAAATAGCAAAAAAAAAAT	0.277													3	4	---	---	---	---					
RPL34-AS1	285456	broad.mit.edu	37	4	109461629	109461630	+	RNA	DEL	GT	GT	-	rs36208037		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:109461629_109461630delGT	ENST00000507248.1	-	0	1428_1429					NR_026968.1																						gcatctgtgcgtgtgtgtgtgt	0.411													4	2	---	---	---	---					
RP11-269F21.1	0	broad.mit.edu	37	4	112728376	112728379	+	RNA	DEL	GAGA	GAGA	-	rs13116252		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:112728376_112728379delGAGA	ENST00000506068.1	+	0	83				RP11-269F21.2_ENST00000508010.1_lincRNA																							tgtgtgtgtggagagagagagaga	0.363													3	4	---	---	---	---					
RP11-269F21.3	0	broad.mit.edu	37	4	112875276	112875277	+	RNA	INS	-	-	AA			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:112875276_112875277insAA	ENST00000511219.1	-	0	134																											tccatctcaagaaaaaaaaaaa	0.421													2	4	---	---	---	---					
RP11-659O3.1	0	broad.mit.edu	37	4	117193311	117193312	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:117193311_117193312insT	ENST00000509983.1	-	0	199																											ttggcctataattttcttTTTT	0.337													2	4	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134072408	134072408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:134072408delG	ENST00000264360.4	+	1	1939	c.1113delG	c.(1111-1113)gcfs	p.A372fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	372	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGAGGGCGCGGCGCCCGGCA	0.622													19	86	---	---	---	---					
RP11-371F15.3	0	broad.mit.edu	37	4	139847850	139847851	+	RNA	INS	-	-	T	rs146220640	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:139847850_139847851insT	ENST00000507038.1	-	0	158				RP11-371F15.3_ENST00000511951.1_RNA																							agaggccgtgctttccctttga	0.455													7	1	---	---	---	---					
RP13-578N3.3	0	broad.mit.edu	37	4	144687239	144687240	+	RNA	INS	-	-	T	rs146711062	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:144687239_144687240insT	ENST00000499587.2	+	0	178																											gtgatgtttggttttttgttcc	0.401													6	3	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185542484	185542484	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr4:185542484delA	ENST00000522554.1	-	0	292																											actccgtctcaaaaaaaaaaa	0.517													2	4	---	---	---	---					
RP11-445O3.2	0	broad.mit.edu	37	5	4824043	4824044	+	RNA	DEL	TG	TG	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:4824043_4824044delTG	ENST00000507435.1	-	0	206																											catatctttttgtgtgtgtgtg	0.381													3	6	---	---	---	---					
CTD-2247C11.1	0	broad.mit.edu	37	5	5024753	5024754	+	RNA	INS	-	-	G	rs145903054	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:5024753_5024754insG	ENST00000509057.1	-	0	135																											acccctgtcgtggggttgGTAC	0.460													5	3	---	---	---	---					
RP11-419C19.2	0	broad.mit.edu	37	5	13005377	13005378	+	RNA	INS	-	-	CT	rs112419685		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:13005377_13005378insCT	ENST00000510065.1	-	0	166																											aaaattttcccgtgttatcaca	0.366													4	3	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21535746	21535747	+	RNA	DEL	AG	AG	-	rs10805732	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:21535746_21535747delAG	ENST00000607545.1	+	0	314					NR_027026.1																						aaaaaaaaaaagacccaaatat	0.307													3	3	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21558318	21558322	+	RNA	DEL	GTTTA	GTTTA	-	rs2354609		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:21558318_21558322delGTTTA	ENST00000607545.1	+	0	314					NR_027026.1																						TCCGTTGGTTGTTTAGTTTATTCCT	0.346													2	4	---	---	---	---					
RP11-152K4.2	0	broad.mit.edu	37	5	31144805	31144805	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:31144805delA	ENST00000523584.1	-	0	125																											AGCACAAACTAAAAAAAAAAA	0.373													2	4	---	---	---	---					
LIFR-AS1	100506495	broad.mit.edu	37	5	38604803	38604803	+	RNA	DEL	A	A	-	rs34735574		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:38604803delA	ENST00000500733.2	+	0	2540				LIFR-AS1_ENST00000500817.2_RNA	NR_037423.1|NR_103553.1																						actctgtctcaaaaaaaaaaa	0.507													4	2	---	---	---	---					
CTD-2023N9.1	0	broad.mit.edu	37	5	56736479	56736479	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:56736479delT	ENST00000506106.1	+	0	119																											AAGGATTCTGtttttttttgg	0.408													2	4	---	---	---	---					
LOC101928858	101928858	broad.mit.edu	37	5	67098878	67098881	+	RNA	DEL	AGTT	AGTT	-	rs34147287		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:67098878_67098881delAGTT	ENST00000506819.1	-	0	152				RP11-434D9.2_ENST00000514791.1_lincRNA														p.0?(1)									CAAAGTTCTGAGTTAGTTATACAG	0.353													4	4	---	---	---	---					
CTC-340D7.1	0	broad.mit.edu	37	5	68145781	68145782	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:68145781_68145782insA	ENST00000503268.1	-	0	377																		p.0?(1)									ACAAGAATTGGAAAAAATGGTT	0.356													2	4	---	---	---	---					
LINC01339	101929495	broad.mit.edu	37	5	89573423	89573423	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:89573423delA	ENST00000519336.1	-	0	176																											accgtgtctcaaaaaaaaaaa	0.428													3	4	---	---	---	---					
CTC-535M15.2	0	broad.mit.edu	37	5	164818976	164818977	+	RNA	INS	-	-	A	rs138299001	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:164818976_164818977insA	ENST00000522189.1	+	0	21																											acaacaacaacaaaaaaaaagc	0.347													2	4	---	---	---	---					
TENM2	57451	broad.mit.edu	37	5	167182137	167182137	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr5:167182137delG	ENST00000519204.1	+	1	197	c.79delG	c.(79-81)gcfs	p.G27fs	TENM2_ENST00000545108.1_Intron|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000518659.1_Intron|TENM2_ENST00000520394.1_Frame_Shift_Del_p.G27fs					teneurin transmembrane protein 2																		ATGGAGACCCGGCAGTACCTC	0.527													7	1196	---	---	---	---					
LOC101930126	101930126	broad.mit.edu	37	6	6905231	6905232	+	RNA	INS	-	-	C	rs147663184	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:6905231_6905232insC	ENST00000422310.2	-	0	206																											ctctttgttttttttttagagg	0.505													5	3	---	---	---	---					
RP1-209A6.1	0	broad.mit.edu	37	6	22812591	22812592	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:22812591_22812592insA	ENST00000420572.2	-	0	197																											aaacaaacaacaaaaaaaaaaa	0.421													3	5	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													10	238	---	---	---	---					
ADCY10P1	221442	broad.mit.edu	37	6	41105476	41105477	+	RNA	INS	-	-	GAA	rs111233412	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:41105476_41105477insGAA	ENST00000567255.1	+	0	3999					NR_026938.2																						TCTGCATTTCTGAAGAAGTATT	0.416													4	3	---	---	---	---					
LOC101928280	101928280	broad.mit.edu	37	6	69004354	69004355	+	RNA	DEL	TG	TG	-	rs67792403		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:69004354_69004355delTG	ENST00000445346.1	-	0	237																											ttgaaggttttgtgtgtgtgtg	0.332													3	3	---	---	---	---					
COL19A1	1310	broad.mit.edu	37	6	70856740	70856740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:70856740delG	ENST00000322773.4	+	27	1954	c.1852delG	c.(1852-1854)ggfs	p.G618fs	COL19A1_ENST00000393344.1_Frame_Shift_Del_p.G240fs	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	618	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CGGTTCCCCAGGGGACATAGG	0.438													32	22	---	---	---	---					
LOC101928516	101928516	broad.mit.edu	37	6	75053587	75053587	+	RNA	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:75053587delG	ENST00000435946.1	+	0	138																											tgctcacgctgggagctgtag	0.483													2	4	---	---	---	---					
LINC00271	100131814	broad.mit.edu	37	6	135952445	135952446	+	RNA	INS	-	-	TT	rs145087555	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:135952445_135952446insTT	ENST00000421378.2	+	0	147					NR_026805.1																						AGCAAACATTATTTTTTTGCCC	0.441													6	2	---	---	---	---					
LOC100130476	100130476	broad.mit.edu	37	6	138178292	138178293	+	RNA	INS	-	-	T	rs59214750		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:138178292_138178293insT	ENST00000606998.1	-	0	1056				RP11-356I2.4_ENST00000606327.1_RNA	NR_049793.1																						tcttcttcttcttttttttttt	0.475													2	4	---	---	---	---					
RP1-111C20.4	0	broad.mit.edu	37	6	159448495	159448495	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr6:159448495delC	ENST00000607391.1	+	0	416				RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA																							tacaattcatccatgtaacca	0.388													2	4	---	---	---	---					
AC073333.8	0	broad.mit.edu	37	7	16754861	16754862	+	RNA	INS	-	-	A	rs67334479	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:16754861_16754862insA	ENST00000418907.1	-	0	72																											GAAAGCTGATTAAAACTGGCAA	0.441													3	4	---	---	---	---					
LINC01162	104355138	broad.mit.edu	37	7	20984145	20984146	+	RNA	INS	-	-	G	rs71023403	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:20984145_20984146insG	ENST00000447262.2	+	0	151																											tcagggcataagggggggctgt	0.396													3	3	---	---	---	---					
AC004540.5	0	broad.mit.edu	37	7	26494274	26494275	+	RNA	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:26494274_26494275insG	ENST00000418758.2	+	0	468																											TGCCTTGGCAAGGGTCATCTTT	0.475													2	4	---	---	---	---					
AC009262.2	0	broad.mit.edu	37	7	34256535	34256536	+	RNA	DEL	GA	GA	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:34256535_34256536delGA	ENST00000446484.1	+	0	93																											ggcagcaggtgagagagagaga	0.460													2	4	---	---	---	---					
INHBA-AS1	285954	broad.mit.edu	37	7	41818977	41818978	+	RNA	INS	-	-	A	rs142523106	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:41818977_41818978insA	ENST00000415848.2	+	0	2996_2997					NR_027118.1																						TAAAAACCAACAAAAAAAAATG	0.366													4	4	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698920	57698920	+	RNA	DEL	G	G	-	rs57933303		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:57698920delG	ENST00000605139.1	-	0	416																											gggATTTTATGGGGGTTCCAA	0.413													3	5	---	---	---	---					
AC006378.2	0	broad.mit.edu	37	7	93636373	93636374	+	RNA	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:93636373_93636374insG	ENST00000426634.1	+	0	481																											acataatttgtggggctcaggg	0.381													2	4	---	---	---	---					
LINC01392	104355291	broad.mit.edu	37	7	114858256	114858257	+	RNA	INS	-	-	AA	rs3030502	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:114858256_114858257insAA	ENST00000419883.1	-	0	173																											GTGAATAACTCAGACTCATAGA	0.337													2	4	---	---	---	---					
LOC101928283	101928283	broad.mit.edu	37	7	125005104	125005104	+	RNA	DEL	T	T	-	rs139922243		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:125005104delT	ENST00000424515.2	+	0	1189																											acatcgcctgttttttttttt	0.393													2	4	---	---	---	---					
AC009784.3	0	broad.mit.edu	37	7	136087670	136087673	+	RNA	DEL	AAAC	AAAC	-	rs58548546		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:136087670_136087673delAAAC	ENST00000445293.2	+	0	730																											aatccttgataaacaacttttact	0.309													3	4	---	---	---	---					
LOC349160	349160	broad.mit.edu	37	7	136499245	136499245	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:136499245delT	ENST00000439694.1	-	0	343				AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA																							ctattattggtgtgtaggaat	0.373													2	4	---	---	---	---					
U66061.31	0	broad.mit.edu	37	7	142421637	142421638	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:142421637_142421638insT	ENST00000506718.1	+	0	401																											CCAGAAAGCAGTGGTGAAGAAA	0.416													3	6	---	---	---	---					
OR9A2	135924	broad.mit.edu	37	7	142723999	142724000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr7:142723999_142724000insT	ENST00000350513.2	-	1	282_283	c.220_221insA	c.(220-222)catfs	p.H74fs		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GACAATTATGGTTGTGACCAGG	0.480													19	124	---	---	---	---					
RP11-317N12.1	0	broad.mit.edu	37	8	33866652	33866652	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:33866652delC	ENST00000523336.1	+	0	99				RP1-273G13.3_ENST00000521714.1_lincRNA																							GGAGTTTCTTCCTGTTGATTC	0.468													2	4	---	---	---	---					
LINC00293	497634	broad.mit.edu	37	8	47757055	47757056	+	RNA	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:47757055_47757056insC	ENST00000521715.1	+	0	296					NR_027013.1																						AGTTAGCCCATCCCCTTGAAta	0.406													2	4	---	---	---	---					
RP11-10H3.1	0	broad.mit.edu	37	8	50126721	50126722	+	RNA	INS	-	-	CA	rs56930356	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:50126721_50126722insCA	ENST00000518222.1	+	0	271																											agtgttgtcaccacacacacac	0.406													4	6	---	---	---	---					
LOC102724612	102724612	broad.mit.edu	37	8	64379972	64379972	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:64379972delA	ENST00000518739.1	+	0	422																											CTGCATAGGCAAAATATACTA	0.318													2	4	---	---	---	---					
RP11-157I4.4	0	broad.mit.edu	37	8	82362901	82362902	+	RNA	DEL	TC	TC	-	rs75082757		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:82362901_82362902delTC	ENST00000524085.2	+	0	298																											ctccatgggttctcaaatgttt	0.421													3	5	---	---	---	---					
RP11-99H20.1	0	broad.mit.edu	37	8	83019591	83019592	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:83019591_83019592insT	ENST00000520155.1	-	0	153																											ATTTCATGTTATTTttttgttt	0.332													3	3	---	---	---	---					
RP11-653B10.1	0	broad.mit.edu	37	8	83588935	83588935	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:83588935delA	ENST00000522776.1	-	0	36																											agcagagattaaaaaaaaaaa	0.303													2	4	---	---	---	---					
LOC101927141	101927141	broad.mit.edu	37	8	83843882	83843883	+	RNA	DEL	AC	AC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:83843882_83843883delAC	ENST00000522123.1	-	0	57				CTD-2272D18.1_ENST00000524359.1_lincRNA																							gttcacacatacacacacacac	0.332													4	6	---	---	---	---					
CTB-118P15.2	0	broad.mit.edu	37	8	89017062	89017063	+	RNA	INS	-	-	CA	rs57436361	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:89017062_89017063insCA	ENST00000518129.1	+	0	220																											ATGGCCTATATcacacacacac	0.361													3	4	---	---	---	---					
FLJ46284	441369	broad.mit.edu	37	8	93766613	93766616	+	RNA	DEL	TTTG	TTTG	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:93766613_93766616delTTTG	ENST00000504861.2	-	0	140				RP11-100L22.2_ENST00000521148.1_RNA|RP11-100L22.2_ENST00000521230.1_RNA	NR_046114.1																						ATAtatacaatttgttagtttgct	0.382													3	4	---	---	---	---					
LINC00535	642924	broad.mit.edu	37	8	94598911	94598911	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:94598911delA	ENST00000501400.1	-	0	948					NR_033858.1																						agtccatatcaaaaaaaaaaa	0.423													4	8	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96457086	96457089	+	RNA	DEL	AAAC	AAAC	-	rs34956127		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:96457086_96457089delAAAC	ENST00000521905.1	+	0	281																											tccgtctcaaaaacaaacaaacaa	0.456													2	4	---	---	---	---					
KB-1460A1.1	0	broad.mit.edu	37	8	102135249	102135249	+	RNA	DEL	T	T	-	rs71276943		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:102135249delT	ENST00000524369.1	-	0	360																											TATGGAGTTGttttttttttt	0.398													3	4	---	---	---	---					
LINC01181	379034	broad.mit.edu	37	8	104136425	104136425	+	RNA	DEL	T	T	-	rs143123092		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:104136425delT	ENST00000503718.2	+	0	182																											ctttttttcattttttttttt	0.418													2	4	---	---	---	---					
RP11-58O3.2	0	broad.mit.edu	37	8	112765850	112765853	+	RNA	DEL	TATC	TATC	-	rs66826443		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:112765850_112765853delTATC	ENST00000522390.1	+	0	238																											TCAAAATTAATATCTATCACTCCT	0.284													2	4	---	---	---	---					
RP11-369K17.1	0	broad.mit.edu	37	8	122110887	122110887	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:122110887delT	ENST00000517739.1	+	0	188																											aAACCCAAAGTTTCAAAGTCT	0.398													2	4	---	---	---	---					
RP11-89K10.1	0	broad.mit.edu	37	8	127655748	127655750	+	RNA	DEL	AAC	AAC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:127655748_127655750delAAC	ENST00000519880.1	+	0	156				RP11-89K10.1_ENST00000520512.1_RNA																							caaacaaacaaacaaaAAACGCA	0.335													3	3	---	---	---	---					
LOC101927845	101927845	broad.mit.edu	37	8	135890796	135890796	+	RNA	DEL	T	T	-	rs35543691		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:135890796delT	ENST00000505083.1	+	0	1696																											CCTCTCTCTCTTTTTTTTTAA	0.413													5	3	---	---	---	---					
RP11-431D12.1	0	broad.mit.edu	37	8	137520237	137520238	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:137520237_137520238insA	ENST00000523232.1	+	0	55																											agtcataaaacaaaactaatta	0.252													2	4	---	---	---	---					
RP11-431D12.1	0	broad.mit.edu	37	8	137529706	137529707	+	RNA	INS	-	-	TA	rs144505917	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:137529706_137529707insTA	ENST00000523232.1	+	0	390																											agccttgaaactgtgtagtaaa	0.455													9	4	---	---	---	---					
LOC401478	401478	broad.mit.edu	37	8	138842530	138842542	+	RNA	DEL	TGGGGCCATTTTA	TGGGGCCATTTTA	-	rs140519175		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:138842530_138842542delTGGGGCCATTTTA	ENST00000518973.1	-	0	680																											gagatgggggtggggccattttataggatttgg	0.507													4	7	---	---	---	---					
LOC401478	401478	broad.mit.edu	37	8	139061755	139061756	+	RNA	INS	-	-	CA	rs139336491	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:139061755_139061756insCA	ENST00000518973.1	-	0	514																											atacacaggcgcacacacacac	0.450													2	4	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142470389	142470390	+	RNA	INS	-	-	T	rs34187707		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr8:142470389_142470390insT	ENST00000430863.1	-	0	2558					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TTTAATGCAGATTTTTTTTTTT	0.302													5	3	---	---	---	---					
RFX3-AS1	101929302	broad.mit.edu	37	9	3560926	3560926	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:3560926delC	ENST00000423112.2	+	0	190																											ggttattttgcccattagttg	0.353													2	4	---	---	---	---					
RP11-311H10.4	0	broad.mit.edu	37	9	33409527	33409528	+	RNA	INS	-	-	T	rs71506115		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:33409527_33409528insT	ENST00000450864.1	+	0	286																											AAtttccttccttttttttttt	0.465													3	6	---	---	---	---					
LINC01508	101927873	broad.mit.edu	37	9	93173145	93173146	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:93173145_93173146insA	ENST00000425666.1	-	0	59																											tctctacaattaaaaaaaaaag	0.470													2	4	---	---	---	---					
RP11-308N19.1	0	broad.mit.edu	37	9	109126005	109126006	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:109126005_109126006insT	ENST00000435485.1	+	0	171																											ttgatgtctgatttgggctgcc	0.426													2	4	---	---	---	---					
LINC01505	100996590	broad.mit.edu	37	9	109407961	109407961	+	RNA	DEL	A	A	-	rs67401960		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:109407961delA	ENST00000444985.2	+	0	451																											AGCATCAAGTAAAAAAAATCT	0.343													6	4	---	---	---	---					
LOC340512	340512	broad.mit.edu	37	9	109789417	109789418	+	RNA	DEL	AT	AT	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:109789417_109789418delAT	ENST00000439901.1	-	0	455																											tcctacacacatatgatatgtg	0.292													2	4	---	---	---	---					
LOC340512	340512	broad.mit.edu	37	9	109807470	109807472	+	RNA	DEL	CTC	CTC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:109807470_109807472delCTC	ENST00000439901.1	-	0	455																											CTCTGTTCTTCTCAGATACATCA	0.493													3	5	---	---	---	---					
LINC01509	101928720	broad.mit.edu	37	9	110183267	110183267	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr9:110183267delC	ENST00000423523.1	-	0	271																											TGGCcatccaccacccattaa	0.517													2	4	---	---	---	---					
RP11-672F9.1	0	broad.mit.edu	37	10	38541284	38541285	+	RNA	INS	-	-	C	rs2749637	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:38541284_38541285insC	ENST00000450980.1	+	0	144																											AATCTCACTTGAATTTTTTTTT	0.441													3	3	---	---	---	---					
CCSER2	54462	broad.mit.edu	37	10	86131381	86131390	+	Frame_Shift_Del	DEL	CTCCTGTGCC	CTCCTGTGCC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr10:86131381_86131390delCTCCTGTGCC	ENST00000224756.8	+	2	758_767	c.573_582delCTCCTGTGCC	c.(571-582)aafs	p.NSCA191fs	CCSER2_ENST00000359979.4_Frame_Shift_Del_p.NSCA191fs|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.NSCA191fs	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		CTAGAGCGAACTCCTGTGCCACCAGAAGCA	0.405													10	86	---	---	---	---					
DNHD1	144132	broad.mit.edu	37	11	6567895	6567896	+	In_Frame_Ins	INS	-	-	TGCCCTACTGCA	rs35685553	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:6567895_6567896insTGCCCTACTGCA	ENST00000254579.6	+	21	6290_6291	c.5726_5727insTGCCCTACTGCA	c.(5725-5727)ggc>gTGCCCTACTGCAgc	p.1909_1909G>VPYCS	DNHD1_ENST00000527990.2_In_Frame_Ins_p.1909_1909G>VPYCS	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1909				A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845).	microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATTGAGGAGGCTGCCCTACTGC	0.559													3	4	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	13994487	13994488	+	RNA	DEL	TC	TC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:13994487_13994488delTC	ENST00000310358.7	+	0	776							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ggtcattccatctctctctctc	0.500													3	3	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													7	56	---	---	---	---					
C11orf97	643037	broad.mit.edu	37	11	94258979	94258979	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:94258979delA	ENST00000542198.1	+	0	198																											GAAAGGAACTAAAATATTTTT	0.378													2	4	---	---	---	---					
AMOTL1	154810	broad.mit.edu	37	11	94449402	94449403	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:94449402_94449403insT	ENST00000536540.1	-	0	52				RP11-867G2.8_ENST00000537874.1_RNA																							ggaattgtgtgtttttgatgtg	0.277													2	4	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112320635	112320636	+	RNA	INS	-	-	T			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:112320635_112320636insT	ENST00000528496.1	+	0	231																											gtttggtctccttttttattct	0.351													2	4	---	---	---	---					
AP000797.3	0	broad.mit.edu	37	11	115709563	115709564	+	RNA	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:115709563_115709564insC	ENST00000539305.1	+	0	163																											TGAAATGTCCACCCCCTTCCTC	0.371													2	4	---	---	---	---					
AP000797.4	0	broad.mit.edu	37	11	115812222	115812223	+	RNA	DEL	GT	GT	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr11:115812222_115812223delGT	ENST00000537491.1	+	0	293																											gcgtgcgtgcgtgtgtgtgtgt	0.465													3	4	---	---	---	---					
SSPN	8082	broad.mit.edu	37	12	26447409	26447409	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:26447409delT	ENST00000540392.1	-	0	130				RP11-283G6.5_ENST00000540625.1_RNA																							cccagaaatctttttttaaca	0.383													2	4	---	---	---	---					
RP11-123O10.4	0	broad.mit.edu	37	12	67404596	67404597	+	RNA	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:67404596_67404597insC	ENST00000535721.1	-	0	113																											aaacactgtctcccccccagcg	0.564													4	7	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76026343	76026343	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:76026343delT	ENST00000552856.1	-	0	401																											TAAGTCATGGTGCTCACAACA	0.363													2	4	---	---	---	---					
RP11-511B23.2	0	broad.mit.edu	37	12	93579520	93579523	+	RNA	DEL	GTGA	GTGA	-	rs60747570		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:93579520_93579523delGTGA	ENST00000547432.1	-	0	316				RP11-511B23.2_ENST00000549930.1_RNA																							gtgtgtgtgtgtgagagagagaga	0.461													4	4	---	---	---	---					
RMST	196475	broad.mit.edu	37	12	97835074	97835074	+	RNA	DEL	A	A	-	rs35296748		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:97835074delA	ENST00000538559.2	+	0	282																											gaaaaaagtgaaaaaaaaaaa	0.383													3	3	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124577305	124577306	+	RNA	INS	-	-	G	rs143330691		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr12:124577305_124577306insG	ENST00000540762.1	+	0	247																											atggtgatgatgtgatgatggt	0.446													3	3	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	78998898	78998898	+	RNA	DEL	C	C	-	rs71895674		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:78998898delC	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA																							tcaaaaaaaacagaaagaaag	0.498													2	4	---	---	---	---					
NALCN-AS1	100885778	broad.mit.edu	37	13	101498918	101498918	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:101498918delA	ENST00000457843.1	+	0	141					NR_047687.1																						ATTGCTCCTTAGGTAGTATTG	0.423													4	4	---	---	---	---					
NALCN-AS1	100885778	broad.mit.edu	37	13	101689280	101689280	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr13:101689280delA	ENST00000457843.1	+	0	394					NR_047687.1																						ATTGCCCTGGAAAAAAAAAAT	0.458													2	4	---	---	---	---					
LOC728755	728755	broad.mit.edu	37	14	28118772	28118772	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:28118772delA	ENST00000553392.1	-	0	262																											gcaattcctcaaggatctaga	0.403													2	4	---	---	---	---					
FOXG1-AS1	103695363	broad.mit.edu	37	14	29225302	29225305	+	RNA	DEL	GAAG	GAAG	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:29225302_29225305delGAAG	ENST00000551395.1	-	0	278				RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA																							agcagggaaagaaggaaggaagga	0.475													3	4	---	---	---	---					
RP11-58E21.5	0	broad.mit.edu	37	14	50512406	50512406	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:50512406delC	ENST00000556019.2	-	0	309																											GTGGAATCTTCCAGTGCCTCT	0.478													2	4	---	---	---	---					
GALC	2581	broad.mit.edu	37	14	88317364	88317365	+	RNA	DEL	TC	TC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:88317364_88317365delTC	ENST00000554305.1	-	0	17																											tctctttctttctctctctctc	0.391													2	4	---	---	---	---					
RP11-1029J19.5	0	broad.mit.edu	37	14	102136157	102136158	+	RNA	INS	-	-	A	rs113895794		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr14:102136157_102136158insA	ENST00000557778.1	-	0	55																											gtgctgaagggaaaaaaaaaaa	0.366													3	3	---	---	---	---					
LINC01193	348120	broad.mit.edu	37	15	21163056	21163056	+	RNA	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:21163056delG	ENST00000553416.1	+	0	515					NR_040094.1																						ACTGCCAATTGGGCAACATGG	0.353													5	2	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22310229	22310230	+	RNA	INS	-	-	T	rs139039355	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:22310229_22310230insT	ENST00000558896.1	+	0	99																											ggttttagttatttttttttct	0.317													3	3	---	---	---	---					
RP11-184D12.1	0	broad.mit.edu	37	15	36460286	36460287	+	RNA	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:36460286_36460287insG	ENST00000561394.1	-	0	136																											atgcatTtgttggggggcaatt	0.322													2	4	---	---	---	---					
CPEB1-AS1	283692	broad.mit.edu	37	15	83325523	83325524	+	RNA	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:83325523_83325524insC	ENST00000560650.1	+	0	1328					NR_046096.1																						TGGGGAAAATGCCCCCGGGGGA	0.584													2	4	---	---	---	---					
LINC01197	400456	broad.mit.edu	37	15	95837790	95837790	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr15:95837790delT	ENST00000508732.2	-	0	271					NR_034095.1																						CTATGAACAAttttttttttt	0.488													2	4	---	---	---	---					
LOC101927009	101927009	broad.mit.edu	37	16	9495345	9495347	+	RNA	DEL	ATC	ATC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:9495345_9495347delATC	ENST00000564305.1	+	0	193																											catcaccattatcatcataatct	0.414													4	4	---	---	---	---					
U91319.1	0	broad.mit.edu	37	16	13626426	13626427	+	RNA	INS	-	-	TGTGTGTG			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:13626426_13626427insTGTGTGTG	ENST00000571619.1	+	0	552																											gtgtgtgtgtgtgtgtgtgtgt	0.455													5	6	---	---	---	---					
RP11-19N8.2	0	broad.mit.edu	37	16	33037352	33037352	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:33037352delT	ENST00000567619.1	-	0	499																											TAAATGACAATGAATTTTTTT	0.388													2	4	---	---	---	---					
RP11-23E10.2	0	broad.mit.edu	37	16	33353318	33353318	+	RNA	DEL	A	A	-	rs76361024		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:33353318delA	ENST00000568893.1	-	0	231																											agcctgtctcaaaaaaaaaat	0.468													4	2	---	---	---	---					
LOC101927580	101927580	broad.mit.edu	37	16	59965383	59965396	+	RNA	DEL	ACACACACACACAC	ACACACACACACAC	-	rs67194799		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:59965383_59965396delACACACACACACAC	ENST00000568279.1	+	0	173																											caataacaaaacacacacacacacacacacacac	0.379													4	4	---	---	---	---					
LOC101927650	101927650	broad.mit.edu	37	16	65184642	65184643	+	RNA	INS	-	-	A	rs142103585	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:65184642_65184643insA	ENST00000563754.1	-	0	406																											AAACATGAAATAAAAAATCTAC	0.366													3	5	---	---	---	---					
LOC101927650	101927650	broad.mit.edu	37	16	65206864	65206871	+	RNA	DEL	TGTGTGTG	TGTGTGTG	-	rs71905884		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:65206864_65206871delTGTGTGTG	ENST00000563754.1	-	0	406																											tatatgaacttgtgtgtgtgtgtgtgtg	0.365													3	3	---	---	---	---					
PLA2G15	23659	broad.mit.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)gggfs	p.G230fs	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629													3	4	---	---	---	---					
LOC102724084	102724084	broad.mit.edu	37	16	80204004	80204004	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:80204004delC	ENST00000565050.1	-	0	598				RP11-525K10.3_ENST00000568776.1_RNA																							GCAGCCTGTTCCCCCCCCGAC	0.373													2	4	---	---	---	---					
LOC102724344	102724344	broad.mit.edu	37	16	86768119	86768120	+	RNA	INS	-	-	C			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr16:86768119_86768120insC	ENST00000562064.1	+	0	156																											TCTTCCTGCGTCCCCCCGCGTC	0.480													2	4	---	---	---	---					
MYHAS	100128560	broad.mit.edu	37	17	10377347	10377347	+	RNA	DEL	C	C	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:10377347delC	ENST00000587182.1	+	0	155				CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA																							ttggatgtgtccacagaaaag	0.393													3	4	---	---	---	---					
RP5-1110E20.1	0	broad.mit.edu	37	17	39016705	39016705	+	RNA	DEL	T	T	-	rs72397610		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:39016705delT	ENST00000579136.1	+	0	61																											ttttttttgcttttttttttt	0.423													5	6	---	---	---	---					
CTC-501O10.1	0	broad.mit.edu	37	17	41762306	41762306	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:41762306delA	ENST00000593169.1	+	0	93																											gagggtagggaggtgacccag	0.577													2	4	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135787	46135788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:46135787_46135788insG	ENST00000362042.3	+	6	1719_1720	c.1103_1104insG	c.(1102-1104)cggfs	p.R368fs	NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	368					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGCA	0.604													7	233	---	---	---	---					
LOC101927274	101927274	broad.mit.edu	37	17	49394226	49394226	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:49394226delA	ENST00000514726.1	-	0	1547																											tttcatttgtaacaggacaga	0.343													2	4	---	---	---	---					
LINC01482	101928104	broad.mit.edu	37	17	66624631	66624632	+	RNA	DEL	TG	TG	-	rs78155060		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:66624631_66624632delTG	ENST00000585484.1	+	0	33																											tcctcaaaactgtttatctttc	0.421													8	5	---	---	---	---					
RP11-101O21.1	0	broad.mit.edu	37	17	72127926	72127927	+	RNA	INS	-	-	ACAG	rs148562643	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr17:72127926_72127927insACAG	ENST00000584003.1	-	0	163																											gacccaaagaaacaaacccatg	0.421													3	3	---	---	---	---					
MIR3976HG	645355	broad.mit.edu	37	18	5750566	5750566	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:5750566delT	ENST00000566533.1	+	0	146					NR_038839.1																						GTCAAATTCATTGCTTGCTAC	0.438													2	4	---	---	---	---					
LOC101927571	101927571	broad.mit.edu	37	18	20432245	20432248	+	RNA	DEL	TGTG	TGTG	-	rs55768040		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:20432245_20432248delTGTG	ENST00000583086.1	-	0	84				RP11-739L10.1_ENST00000578831.1_RNA																							cactttgggctgtgtgtgtgtgtg	0.353													3	3	---	---	---	---					
RP11-403A21.1	0	broad.mit.edu	37	18	21545580	21545581	+	RNA	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:21545580_21545581insG	ENST00000582300.1	-	0	183																											tgaagaggtgagggggcaggaa	0.495													2	4	---	---	---	---					
CTD-2515C13.2	0	broad.mit.edu	37	18	26911116	26911117	+	RNA	INS	-	-	GA	rs145175330	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:26911116_26911117insGA	ENST00000577674.1	-	0	80																											tgatccattgtgagactttata	0.386													2	4	---	---	---	---					
DSCAS	101927698	broad.mit.edu	37	18	28696154	28696154	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:28696154delA	ENST00000581836.1	+	0	208																											ACTTATCCTCAAAtggagaaa	0.413													2	4	---	---	---	---					
RP11-746B8.1	0	broad.mit.edu	37	18	30480912	30480913	+	RNA	INS	-	-	ACACAC	rs5823881	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr18:30480912_30480913insACACAC	ENST00000580366.1	+	0	27																											CCCTGCAGATAacacacacaca	0.441													2	4	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9362217	9362217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:9362217delT	ENST00000456448.1	+	1	612	c.498delT	c.(496-498)tcfs	p.S166fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTGTTGTCTTTTTTTATTA	0.443													14	33	---	---	---	---					
ZNF833P	401898	broad.mit.edu	37	19	11775607	11775609	+	RNA	DEL	AAT	AAT	-	rs150757235		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:11775607_11775609delAAT	ENST00000344893.3	+	0	880					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CAGATGAGTCAATAACCCTGGCT	0.547													7	3	---	---	---	---					
CTD-2189E23.1	0	broad.mit.edu	37	19	14403996	14403997	+	RNA	DEL	TC	TC	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:14403996_14403997delTC	ENST00000592263.1	-	0	20_21																											CTCCCAACCTTCTCTCTCTCTC	0.574													2	4	---	---	---	---					
CTD-2050I18.1	0	broad.mit.edu	37	19	32038894	32038897	+	RNA	DEL	TTAC	TTAC	-	rs76472340		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:32038894_32038897delTTAC	ENST00000593063.1	+	0	282																											atccatccatttactcatccatcc	0.485													2	4	---	---	---	---					
RP11-15A1.2	0	broad.mit.edu	37	19	44408808	44408809	+	RNA	INS	-	-	A			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr19:44408808_44408809insA	ENST00000586247.1	+	0	144																											gataaaagaccaaaaacacaaa	0.332													2	4	---	---	---	---					
RP11-103J8.1	0	broad.mit.edu	37	20	10746970	10746971	+	RNA	DEL	AA	AA	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:10746970_10746971delAA	ENST00000605292.1	+	0	98																											actccatctcaaaaaaaaaaaa	0.436													2	4	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21148055	21148055	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:21148055delT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							CCCTTATACCTTCACCATCTG	0.458													2	4	---	---	---	---					
LINC00261	140828	broad.mit.edu	37	20	22538127	22538128	+	RNA	DEL	TG	TG	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:22538127_22538128delTG	ENST00000420070.1	-	0	155																											ACCGGAAGGCtgtgtgtgtgtg	0.554													3	6	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26093824	26093825	+	RNA	INS	-	-	GT	rs144355995	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:26093824_26093825insGT	ENST00000478176.1	-	0	150					NR_003678.1																						acaggaacaacaagaatgtcca	0.391													4	5	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29595845	29595845	+	RNA	DEL	A	A	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr20:29595845delA	ENST00000432067.1	-	0	74																											acacagtgagaccttgtccct	0.473													3	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11093134	11093135	+	RNA	INS	-	-	C	rs141935972		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:11093134_11093135insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCTCCCCTACCCCCCACAAC	0.401													4	7	---	---	---	---					
AL157359.3	0	broad.mit.edu	37	21	20335455	20335455	+	RNA	DEL	T	T	-	rs71318169		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:20335455delT	ENST00000449840.1	-	0	111																											AATTATATCATTTTTAGCCTT	0.294													3	3	---	---	---	---					
AP000233.4	0	broad.mit.edu	37	21	26553098	26553099	+	RNA	INS	-	-	A	rs144546782	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:26553098_26553099insA	ENST00000409758.1	-	0	89																											TCAATGAAAATAGAGATGAATG	0.366													5	3	---	---	---	---					
AP000233.4	0	broad.mit.edu	37	21	26555324	26555327	+	RNA	DEL	GTGT	GTGT	-	rs72284829		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:26555324_26555327delGTGT	ENST00000409758.1	-	0	89																											ACTGAATATAgtgtgtgtgtgtgt	0.363													3	3	---	---	---	---					
LINC00113	54088	broad.mit.edu	37	21	29112694	29112694	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:29112694delT	ENST00000442550.1	+	0	83																											AGAGTTCTACTTTTTATCCAG	0.398													2	4	---	---	---	---					
AJ006995.3	0	broad.mit.edu	37	21	29329952	29329953	+	RNA	INS	-	-	A	rs34167389	by1000genomes	TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr21:29329952_29329953insA	ENST00000433344.1	+	0	102																											TCTTCGTGATGataccaaatta	0.243													3	3	---	---	---	---					
RP1-213J1P__B.1	0	broad.mit.edu	37	22	28107042	28107042	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chr22:28107042delT	ENST00000440255.1	-	0	90																											gtgagctccctgttggggaat	0.542													2	4	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42198545	42198545	+	RNA	DEL	G	G	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:42198545delG	ENST00000411879.1	+	0	193																											gatcagtggtgatatcccctt	0.299													2	4	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42271394	42271395	+	RNA	INS	-	-	T	rs111695385		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:42271394_42271395insT	ENST00000411879.1	+	0	193																											ttcccttaacattttttttcat	0.421													6	8	---	---	---	---					
LINC01420	550643	broad.mit.edu	37	X	56776900	56776901	+	RNA	INS	-	-	A	rs76134317		TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:56776900_56776901insA	ENST00000374922.4	+	0	468					NR_015367.2																						ctgggttaaataaaaaaaatat	0.411													5	1	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													7	84	---	---	---	---					
RP1-30E17.2	0	broad.mit.edu	37	X	127577461	127577461	+	RNA	DEL	T	T	-			TCGA-17-Z014-01A-01W-0746-08	TCGA-17-Z014-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca24ac3d-4686-4f0c-a47d-0eff92a623b1	27740118-e4db-49b9-a2d6-8d598f36a2fc	g.chrX:127577461delT	ENST00000449485.1	-	0	158																											CCCTGCTACATTTTTTTGATT	0.333													2	4	---	---	---	---					
