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
KIF20B	9585	broad.mit.edu	37	10	91528104	91528104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:91528104C>T	ENST00000416354.1	+	30	5209	c.5137C>T	c.(5137-5139)Cct>Tct	p.P1713S	KIF20B_ENST00000371728.3_Missense_Mutation_p.P1683S|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.P1643S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1683	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTGAAATTTCCTATTTCAGA	0.299000													21	61					0	0	0.000375601	0	0
RFX7	64864	broad.mit.edu	37	15	56390309	56390309	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:56390309G>A	ENST00000423270.1	-	8	1076	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	RFX7_ENST00000317318.6_Silent_p.I359I|RFX7_ENST00000422057.1_Silent_p.I262I|RFX7_ENST00000559447.2_Silent_p.I262I	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	262					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCCACAACGATACCAATAG	0.403000													9	30					0	0	0.000673444	0	0
ZFP42	132625	broad.mit.edu	37	4	188924786	188924786	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:188924786C>T	ENST00000326866.4	+	4	1233	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ZFP42_ENST00000509524.1_Silent_p.F275F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	275					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAACGTTTCGTGTGTCCCT	0.488000													32	33					0	0	0.000339439	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963798	73963798	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:73963798C>T	ENST00000373468.1	-	3	1245	c.594G>A	c.(592-594)caG>caA	p.Q198Q	KIAA2022_ENST00000055682.5_Silent_p.Q198Q			Q5QGS0	K2022_HUMAN	KIAA2022	198					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGAGAGCAGCTGCTCTCCAT	0.458000													12	14					0	0	0.000978159	0	0
SMAD4	4089	broad.mit.edu	37	18	48575077	48575077	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr18:48575077C>T	ENST00000342988.3	+	3	809	c.271C>T	c.(271-273)Cct>Tct	p.P91S	SMAD4_ENST00000398417.2_Missense_Mutation_p.P91S|SMAD4_ENST00000452201.2_Missense_Mutation_p.P91S|SMAD4_ENST00000588745.1_Missense_Mutation_p.P91S|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	91	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAAGGATTTCCTCATGTGAT	0.358000													13	17					0	0	0.00185496	0	0
OR14J1	442191	broad.mit.edu	37	6	29275146	29275146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:29275146C>T	ENST00000377160.2	+	1	744	c.680C>T	c.(679-681)cCa>cTa	p.P227L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTGAGAATCCCATCAGCTGAG	0.493000													58	36					0	0	0.000781405	0	0
MKI67	4288	broad.mit.edu	37	10	129906068	129906068	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:129906068G>A	ENST00000368654.3	-	13	4411	c.4036C>T	c.(4036-4038)Ctg>Ttg	p.L1346L	MKI67_ENST00000368653.3_Silent_p.L986L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1346	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCCAGTCAGGTCTTCCAGA	0.522000													25	86					0	0	0.000586117	0	0
NCAN	1463	broad.mit.edu	37	19	19338872	19338872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:19338872G>A	ENST00000252575.5	+	8	2486	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	NCAN_ENST00000538881.1_Missense_Mutation_p.E266K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	815					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCAAATTTGGAGCCTTGGGT	0.567000													14	15					0	0	0.000219431	0	0
NSA2	10412	broad.mit.edu	37	5	74066456	74066456	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:74066456G>A	ENST00000296802.5	+	4	712	c.342_splice	c.e4-1	p.G115_splice	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	115	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATATTTTTAGGGAAAATGGGA	0.328000													13	46					0	0	0.000566183	0	0
NRXN1	9378	broad.mit.edu	37	2	50699451	50699451	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:50699451C>T	ENST00000404971.1	-	17	4688	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K	NRXN1_ENST00000401710.1_Missense_Mutation_p.E86K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1069K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1077K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1069K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1077K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1077K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1077	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATCCTCTCTCGATCTGTCCG	0.433000													5	18					0	0	0.00116845	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742066	41742066	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:41742066G>A	ENST00000352645.4	+	14	1776	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E507K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	523					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACCATCAGGAGGAGATCGA	0.607000													30	69					0	0	0.000491102	0	0
NXF1	10482	broad.mit.edu	37	11	62566040	62566040	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:62566040G>A	ENST00000532297.1	-	12	1653	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.R342C			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	342	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCGTTCGCGAATGGCGCTG	0.493000													25	41					0	0	0.00178596	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785399	31785399	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:31785399C>T	ENST00000375651.5	+	1	2109	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	HSPA1A_ENST00000458062.2_Silent_p.F531F	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	622					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CTGGGGGCTTCGGGGCTCAGG	0.587000													191	162					0	0	0.000781405	0	0
FLNA	2316	broad.mit.edu	37	X	153594957	153594957	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:153594957G>A	ENST00000422373.1	-	7	1286	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	FLNA_ENST00000360319.4_Silent_p.Y346Y|FLNA_ENST00000344736.4_Silent_p.Y346Y|FLNA_ENST00000369850.3_Silent_p.Y346Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	346					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCGGGGACGTACCAGACGG	0.622000													15	20					0	0	0.000422831	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37151058	37151058	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:37151058G>A	ENST00000421307.1	-	12	991	c.569C>T	c.(568-570)tCt>tTt	p.S190F	LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S190F	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	190	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCAGTAGGAGAGGCCTAAGA	0.433000													25	52					0	0	0.00106085	0	0
SRP19	6728	broad.mit.edu	37	5	112200167	112200167	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:112200167C>T	ENST00000505459.1	+	3	286	c.131C>T	c.(130-132)cCt>cTt	p.P44L	SRP19_ENST00000282999.3_Missense_Mutation_p.P44L|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000515463.1_Silent_p.L19L|SRP19_ENST00000512790.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	44					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GTTGAAAATCCTACAGCTACA	0.338000													15	42					0	0	0.000308642	0	0
UBR2	23304	broad.mit.edu	37	6	42656026	42656026	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:42656026C>T	ENST00000372901.1	+	45	5184	c.4926C>T	c.(4924-4926)tcC>tcT	p.S1642S	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.S1642S			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1642					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)			TGCTGTGCTCCCAGAGTTACT	0.552000													62	48					0	0	0.000781405	0	0
FAM53C	51307	broad.mit.edu	37	5	137677062	137677062	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:137677062C>T	ENST00000239906.5	+	2	466	c.38C>T	c.(37-39)aCt>aTt	p.T13I	FAM53C_ENST00000513056.1_Missense_Mutation_p.T13I|FAM53C_ENST00000507506.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.T13I	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	13										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAGCAGACTCTGGATGAG	0.488000													24	32					0	0	0.000586117	0	0
CD163L1	283316	broad.mit.edu	37	12	7585069	7585069	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:7585069G>A	ENST00000313599.3	-	4	766	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	CD163L1_ENST00000396630.1_Missense_Mutation_p.R237C|CD163L1_ENST00000416109.2_Missense_Mutation_p.R247C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	237	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATCCACGATGTCTGCAA	0.433000													17	36					0	0	0.000958276	0	0
TBRG4	9238	broad.mit.edu	37	7	45148639	45148639	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:45148639G>A	ENST00000258770.3	-	2	319	c.198C>T	c.(196-198)ccC>ccT	p.P66P	TBRG4_ENST00000395655.4_Silent_p.P66P|TBRG4_ENST00000494076.1_Silent_p.P66P|TBRG4_ENST00000361278.3_Silent_p.P66P|TBRG4_ENST00000471142.1_5'UTR	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	66					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TCTCTATGTAGGGAGTAGATG	0.557000													18	50					0	0	0.00074312	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159920	167159920	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:167159920C>T	ENST00000476257.1	-	10	1493	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	SERPINI2_ENST00000264677.4_Missense_Mutation_p.G399R|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G399R|SERPINI2_ENST00000471111.1_Missense_Mutation_p.G399R			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	399					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAATCTCTTCCTTTTATCTCC	0.328000													6	21					0	0	0.000157383	0	0
SP140	11262	broad.mit.edu	37	2	231108475	231108475	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:231108475G>A	ENST00000392045.3	+	5	634	c.520G>A	c.(520-522)Gat>Aat	p.D174N	SP140_ENST00000350136.5_Missense_Mutation_p.D154N|SP140_ENST00000343805.6_Missense_Mutation_p.D174N|SP140_ENST00000417495.3_Missense_Mutation_p.D174N|SP140_ENST00000486687.2_Missense_Mutation_p.D174N|SP140_ENST00000420434.3_Missense_Mutation_p.D174N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	174					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGAAATGGATGATATAGCAGT	0.473000													29	51					0	0	0.000814825	0	0
CHIA	27159	broad.mit.edu	37	1	111854906	111854906	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:111854906C>T	ENST00000369740.1	+	4	253	c.150C>T	c.(148-150)ctC>ctT	p.L50L	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000343320.6_Silent_p.L50L|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	50					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCCCTGCCTCTGTACCCACC	0.562000													11	36					0	0	0.000422831	0	0
MYNN	55892	broad.mit.edu	37	3	169497049	169497049	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:169497049G>T	ENST00000349841.5	+	3	1423	c.760G>T	c.(760-762)Gtt>Ttt	p.V254F	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.V254F|MYNN_ENST00000544106.1_Missense_Mutation_p.V254F|MYNN_ENST00000356716.4_Missense_Mutation_p.V254F	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGTGCACACTGTTACAGTGAA	0.403000													8	26					6.5536e-12	6.13258e-11	0.000157383	1	0
PERP	64065	broad.mit.edu	37	6	138417518	138417518	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:138417518C>T	ENST00000421351.3	-	2	498	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	110					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CCTCCAATCACTCTCAGGAAG	0.498000													8	19					0	0	0.000673444	0	0
TLL2	7093	broad.mit.edu	37	10	98170121	98170121	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:98170121C>T	ENST00000357947.3	-	9	1384	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	387	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTACCTTTTCCCCTGGGGTG	0.522000													13	34					0	0	0.000308642	0	0
RFX7	64864	broad.mit.edu	37	15	56388259	56388259	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:56388259G>A	ENST00000423270.1	-	9	1666	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	RFX7_ENST00000317318.6_Missense_Mutation_p.S556F|RFX7_ENST00000422057.1_Missense_Mutation_p.S459F|RFX7_ENST00000559447.2_Missense_Mutation_p.S459F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	459					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTCATCAGAGTTCTCTTG	0.507000													5	13					0	0	0.000602214	0	0
FOS	2353	broad.mit.edu	37	14	75747272	75747272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:75747272G>A	ENST00000303562.4	+	3	612	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	FOS_ENST00000555686.1_Missense_Mutation_p.E21K|FOS_ENST00000555242.1_Missense_Mutation_p.E135K|FOS_ENST00000555347.1_5'UTR|FOS_ENST00000535987.1_Intron	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	135				SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry).	cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GTTATCTCCAGAAGAAGAAGA	0.483000													6	9					0	0	0.00116845	0	0
FAM13A	10144	broad.mit.edu	37	4	89670943	89670943	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:89670943G>A	ENST00000264344.5	-	16	2265	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	FAM13A_ENST00000395002.2_Silent_p.F360F|FAM13A_ENST00000508369.1_Silent_p.F360F|FAM13A_ENST00000511976.1_Silent_p.F272F|FAM13A_ENST00000513837.1_Silent_p.F332F|FAM13A_ENST00000503556.1_Silent_p.F346F	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	686					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTCTTCTTCGAATCTATCTT	0.473000													10	16					0	0	0.000442599	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149641	203149641	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:203149641G>A	ENST00000255409.3	-	8	976	c.851C>T	c.(850-852)cCa>cTa	p.P284L		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	284					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GAACCGGCCTGGAATTCCCGG	0.592000													18	29					0	0	0.00121646	0	0
PROL1	58503	broad.mit.edu	37	4	71275679	71275679	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:71275679C>T	ENST00000399575.2	+	3	808	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	212	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CGCCAACCGTCCTCACACAGT	0.453000													21	48					0	0	0.00152264	0	0
SALL3	27164	broad.mit.edu	37	18	76754643	76754643	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr18:76754643C>T	ENST00000536229.3	+	1	2962	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	SALL3_ENST00000575389.2_Silent_p.G884G|SALL3_ENST00000537592.2_Silent_p.G884G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGCCGTGGGCGACCTGGAGA	0.701000													7	18					0	0	8.12818e-05	0	0
UBR2	23304	broad.mit.edu	37	6	42656027	42656027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:42656027C>T	ENST00000372901.1	+	45	5185	c.4927C>T	c.(4927-4929)Cag>Tag	p.Q1643*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Nonsense_Mutation_p.Q1643*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1643					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)			GCTGTGCTCCCAGAGTTACTG	0.552000													61	48					0	0	0.000781405	0	0
ADH6	130	broad.mit.edu	37	4	100137326	100137326	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:100137326G>A	ENST00000394897.1	-	2	194	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	ADH6_ENST00000237653.7_Missense_Mutation_p.R38C|ADH6_ENST00000394899.2_Missense_Mutation_p.R38C|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	38					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACCTTTATGCGAACTTCCTTT	0.393000													17	30					0	0	0.000566183	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149767	203149767	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:203149767C>T	ENST00000255409.3	-	8	850	c.725G>A	c.(724-726)gGg>gAg	p.G242E		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	242					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAACATGTACCCCACAGCATA	0.567000													4	14					0	0	0.00116845	0	0
BEGAIN	57596	broad.mit.edu	37	14	101012897	101012897	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:101012897C>T	ENST00000443071.2	-	2	262	c.117G>A	c.(115-117)ctG>ctA	p.L39L	BEGAIN_ENST00000355173.2_Silent_p.L39L|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000556751.1_5'UTR	NM_001159531.1	NP_001153003.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	39						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCTCGATCTCCAGGTAGTGGC	0.697000													9	22					0	0	0.000978159	0	0
AMZ1	155185	broad.mit.edu	37	7	2740214	2740214	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:2740214C>T	ENST00000312371.4	+	2	497	c.129C>T	c.(127-129)ttC>ttT	p.F43F	AMZ1_ENST00000407112.1_Silent_p.F43F	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	43							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCGGCTCTTCCTGGCCGAGG	0.672000													36	130					0	0	0.000509022	0	0
OR4D1	26689	broad.mit.edu	37	17	56232787	56232787	+	Silent	SNP	G	G	A	rs17222013		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:56232787G>A	ENST00000268912.5	+	1	294	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGACCAAGACGATCTCCTACC	0.498000													50	59					0	0	0.000781405	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171364	70171364	+	Silent	SNP	A	A	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:70171364A>T	ENST00000342745.4	+	4	676	c.363A>T	c.(361-363)atA>atT	p.I121I		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	121						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CGCTGTCTATAGTGGCTTCTA	0.493000													9	25					0	0	0.000978159	0	0
SMU1	55234	broad.mit.edu	37	9	33062073	33062073	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:33062073G>A	ENST00000397149.3	-	5	654	c.604C>T	c.(604-606)Cct>Tct	p.P202S	SMU1_ENST00000536631.1_Missense_Mutation_p.P41S	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	202						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AGTTGTGTAGGAAACTTTTCT	0.473000													12	14					0	0	0.000219431	0	0
COL11A1	1301	broad.mit.edu	37	1	103449711	103449711	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:103449711C>T	ENST00000358392.2	-	31	2892	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	COL11A1_ENST00000370096.3_Missense_Mutation_p.G847R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G731R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G808R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	847	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTGTCTTCCTGGATATCCT	0.269000													8	21					0	0	0.000673444	0	0
PTPRT	11122	broad.mit.edu	37	20	40827983	40827983	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr20:40827983C>T	ENST00000373198.3	-	17	2689	c.2454G>A	c.(2452-2454)agG>agA	p.R818R	PTPRT_ENST00000373201.1_Silent_p.R786R|PTPRT_ENST00000356100.2_Silent_p.R805R|PTPRT_ENST00000373190.1_Silent_p.R796R|PTPRT_ENST00000373184.1_Silent_p.R786R|PTPRT_ENST00000373187.1_Silent_p.R796R|PTPRT_ENST00000373193.3_Silent_p.R799R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	796					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)				GCCCCATCTCCCTCTGGGCTC	0.557000													94	78					0	0	0.000781405	0	0
ABCC8	6833	broad.mit.edu	37	11	17417462	17417462	+	Missense_Mutation	SNP	G	G	A	rs137852673		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:17417462G>A	ENST00000302539.4	-	34	4263	c.4138C>T	c.(4138-4140)Cgc>Tgc	p.R1380C	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1379C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1379	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCCGGTGCGGCCGCAGATC	0.607000													22	78					0	0	0.000720815	0	0
RGP1	9827	broad.mit.edu	37	9	35749242	35749242	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:35749242C>T	ENST00000456972.2	+	1	40	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	GBA2_ENST00000545786.1_Intron			Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	0										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGCGCTTCCGGCCGGAAG	0.781000													7	1					0	0	0.000274275	0	0
ZNF521	25925	broad.mit.edu	37	18	22806369	22806369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr18:22806369G>A	ENST00000361524.3	-	4	1661	c.1513C>T	c.(1513-1515)Cct>Tct	p.P505S	ZNF521_ENST00000584787.1_Missense_Mutation_p.P285S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P505S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	505					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTAGCTGCAGGGTTTGCAAAT	0.443000			T	PAX5	ALL								10	40					0	0	0.000673444	0	0
OR2A2	442361	broad.mit.edu	37	7	143807482	143807482	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:143807482G>A	ENST00000408979.2	+	1	876	c.807G>A	c.(805-807)caG>caA	p.Q269Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGAGGAGCAGGAGAAAATGC	0.517000													55	89					0	0	0.000781405	0	0
OR1G1	8390	broad.mit.edu	37	17	3030350	3030350	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:3030350G>A	ENST00000328890.2	-	1	525	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGAAGGACAGGCTGTTCATC	0.522000													21	51					0	0	0.00188189	0	0
TFE3	7030	broad.mit.edu	37	X	48887843	48887843	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:48887843G>A	ENST00000315869.7	-	10	1813	c.1554C>T	c.(1552-1554)caC>caT	p.H518H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	518					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCAGCCCCAGGTGGAAGGGGT	0.677000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								16	20					0	0	0.00074312	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	37					0	0	0.00024832	0	0
CBS	875	broad.mit.edu	37	21	44485500	44485500	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr21:44485500G>A	ENST00000398165.3	-	7	922	c.663C>T	c.(661-663)gaC>gaT	p.D221D	CBS_ENST00000398168.1_Silent_p.D221D|CBS_ENST00000352178.5_Silent_p.D221D|CBS_ENST00000544202.1_Silent_p.D133D|CBS_ENST00000398158.1_Silent_p.D221D|CBS_ENST00000359624.3_Silent_p.D221D	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	221					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GCCTCACCTGGTCTAGGATGT	0.622000													48	135					0	0	0.000781405	0	0
GABBR2	9568	broad.mit.edu	37	9	101133789	101133789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:101133789C>T	ENST00000259455.2	-	12	2186	c.1727G>A	c.(1726-1728)tGg>tAg	p.W576*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	576					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTGGACTCTCCAGGTCTTTGC	0.473000													8	8					0	0	0.000673444	0	0
PPP1CB	5500	broad.mit.edu	37	2	28999833	28999833	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:28999833C>T	ENST00000395366.2	+	2	441	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	PPP1CB_ENST00000358506.2_Missense_Mutation_p.P57S|PPP1CB_ENST00000296122.6_Missense_Mutation_p.P57S	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	57					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTGGAAGCACCGCTGAAAAT	0.383000													21	52					0	0	0.00188189	0	0
OR5D14	219436	broad.mit.edu	37	11	55563175	55563175	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:55563175C>T	ENST00000335605.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTGGGATGATCATAATAATCA	0.383000													17	44					0	0	0.00121646	0	0
EBF1	1879	broad.mit.edu	37	5	158158157	158158157	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:158158157C>T	ENST00000313708.6	-	11	1327	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	EBF1_ENST00000517373.1_Missense_Mutation_p.E341K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E318K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	349					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGTGGGTTCGTTGAGCGCT	0.448000			T	HMGA2	lipoma								10	10					0	0	0.000673444	0	0
NSA2	10412	broad.mit.edu	37	5	74066457	74066457	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:74066457G>A	ENST00000296802.5	+	4	713	c.342_splice	c.e4-1	p.G115_splice	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	115	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						TATTTTTAGGGAAAATGGGAA	0.328000													12	47					0	0	0.000422831	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647356	121647356	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:121647356G>A	ENST00000489711.1	+	15	1683	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.G401E|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	432					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ACAGTGGTGGGAAATGAAAAC	0.443000													18	56					0	0	0.000958276	0	0
SLC26A1	10861	broad.mit.edu	37	4	985298	985298	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:985298G>A	ENST00000361661.2	-	3	571	c.194C>T	c.(193-195)cCg>cTg	p.P65L	SLC26A1_ENST00000398520.2_Missense_Mutation_p.P65L|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.P65L|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	65						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTACTCCCGCGGGCGGTACTG	0.692000													7	20					0	0	0.000157383	0	0
KCNV2	169522	broad.mit.edu	37	9	2718332	2718332	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:2718332G>A	ENST00000382082.3	+	1	831	c.593G>A	c.(592-594)tGc>tAc	p.C198Y		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	198						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACGCCACGCTGCTGCCGCATC	0.692000													5	3					0	0	0.000602214	0	0
DNAH11	8701	broad.mit.edu	37	7	21818633	21818633	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:21818633C>T	ENST00000328843.6	+	58	9446	c.9415C>T	c.(9415-9417)Cat>Tat	p.H3139Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3132Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3139	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGAGAAATCATGATGCCGA	0.488000									Kartagener syndrome				8	11					0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10358038	10358038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:10358038G>A	ENST00000255381.2	-	22	2635	c.2525C>T	c.(2524-2526)cCc>cTc	p.P842L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	842					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAGGAGGGGCTTGATCTT	0.448000													16	49					0	0	0.00121646	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747191	26747191	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:26747191C>T	ENST00000529632.2	+	12	2777	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R861C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R861C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R634C|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R58C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R634C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R861C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	861	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGGACGTCTCGCCTGCCCCA	0.532000													14	38					0	0	0.000308642	0	0
SLK	9748	broad.mit.edu	37	10	105778643	105778643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:105778643C>T	ENST00000369755.3	+	15	3654	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1006*|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1037					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAAAGACATCAGCTACTTAA	0.363000													37	57					0	0	0.00128727	0	0
NDRG4	65009	broad.mit.edu	37	16	58543093	58543093	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr16:58543093G>A	ENST00000394282.4	+	14	1376	c.969_splice	c.e14+1	p.Q323_splice	NDRG4_ENST00000570248.1_Splice_Site_p.Q271_splice|NDRG4_ENST00000258187.5_Splice_Site_p.Q303_splice|NDRG4_ENST00000566192.1_Splice_Site_p.Q271_splice|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000568640.1_Splice_Site_p.Q289_splice|NDRG4_ENST00000563799.1_Splice_Site_p.Q289_splice|NDRG4_ENST00000356752.4_Splice_Site_p.Q301_splice|NDRG4_ENST00000569923.1_Splice_Site_p.Q216_splice|NDRG4_ENST00000394279.2_Splice_Site_p.Q303_splice	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	271					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGGTCACACAGGTGAGACTTT	0.597000													19	36					0	0	0.00074312	0	0
UBASH3A	53347	broad.mit.edu	37	21	43864730	43864730	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr21:43864730G>A	ENST00000319294.6	+	14	1856	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	UBASH3A_ENST00000291535.6_Missense_Mutation_p.D571N|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	609	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAATGTGGGGATTTTGCCCA	0.567000													28	65					0	0	0.00106085	0	0
OR4C16	219428	broad.mit.edu	37	11	55339967	55339967	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:55339967G>A	ENST00000314634.3	+	1	364	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGACCGCTATGTGGACATCTG	0.507000													38	88					0	0	0.00111076	0	0
PTH1R	5745	broad.mit.edu	37	3	46944049	46944049	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:46944049C>T	ENST00000313049.5	+	12	1448	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	PTH1R_ENST00000430002.2_Silent_p.P415P|PTH1R_ENST00000418619.1_Silent_p.P415P|PTH1R_ENST00000449590.1_Silent_p.P415P			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	415						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGCTCATGCCCCTCTTTGGCG	0.577000													3	6					0	0	6.4e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168103476	168103476	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:168103476G>A	ENST00000409195.1	+	9	5663	c.5574G>A	c.(5572-5574)acG>acA	p.T1858T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1636T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1858T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1683					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						AAACAGTGACGAAAACAGAAG	0.383000													12	29					0	0	0.00185496	0	0
CNTN6	27255	broad.mit.edu	37	3	1262438	1262438	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:1262438A>T	ENST00000446702.2	+	3	750	c.123A>T	c.(121-123)ttA>ttT	p.L41F	CNTN6_ENST00000350110.2_Missense_Mutation_p.L41F|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	41	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTTTGGATTTATCAAAATCTG	0.388000													23	54					0	0	0.000295444	0	0
TRPM3	80036	broad.mit.edu	37	9	73151678	73151678	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:73151678C>T	ENST00000377110.2	-	25	4558	c.4315G>A	c.(4315-4317)Gcc>Acc	p.A1439T	TRPM3_ENST00000358082.3_Missense_Mutation_p.A1301T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1298T|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1466T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1443T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1288T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1301T|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1298T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1311T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1298T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1311T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1464						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTGAAGGGGCTGTGGAAGGT	0.507000													17	17					0	0	0.00074312	0	0
DOCK11	139818	broad.mit.edu	37	X	117727237	117727237	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:117727237C>T	ENST00000276204.6	+	20	2274	c.2200C>T	c.(2200-2202)Cat>Tat	p.H734Y	DOCK11_ENST00000276202.7_Missense_Mutation_p.H734Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	734	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACTTTTTATCATGTAAGTTG	0.333000													28	18					0	0	0.000339439	0	0
SIM2	6493	broad.mit.edu	37	21	38114028	38114028	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr21:38114028G>A	ENST00000290399.6	+	8	1474	c.861G>A	c.(859-861)aaG>aaA	p.K287K	SIM2_ENST00000430056.3_Silent_p.K287K	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	287	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGTTGGTGAAGGGCCAGGTCA	0.647000													5	19					0	0	8.12818e-05	0	0
RNF17	56163	broad.mit.edu	37	13	25363493	25363493	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr13:25363493G>C	ENST00000255324.5	+	8	843	c.791G>C	c.(790-792)cGg>cCg	p.R264P	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.R265P|RNF17_ENST00000381921.1_Missense_Mutation_p.R264P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	264					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAGATTATCCGGACTTTGCAG	0.338000													50	102					0	0	0.000781405	0	0
AGTRAP	57085	broad.mit.edu	37	1	11807497	11807497	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:11807497G>A	ENST00000314340.5	+	3	117	c.62_splice	c.e3-1	p.W21_splice	AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_Splice_Site_p.G54_splice|AGTRAP_ENST00000400895.2_Splice_Site_p.G54_splice|AGTRAP_ENST00000376627.2_Splice_Site_p.G66_splice|AGTRAP_ENST00000376629.4_Splice_Site_p.W21_splice|AGTRAP_ENST00000376637.3_Splice_Site_p.G10_splice	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	21						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCTACAGGGGCTGCATTG	0.627000													30	66					0	0	0.000953801	0	0
NT5C3B	115024	broad.mit.edu	37	17	39992141	39992141	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:39992141G>A	ENST00000269534.8	-	2	158	c.57C>T	c.(55-57)gcC>gcT	p.A19A	NT5C3B_ENST00000435506.2_Silent_p.A27A|NT5C3B_ENST00000521789.1_Intron	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		CCTTGCGGAGGGCGCCCACGA	0.711000													4	11					0	0	0.000602214	0	0
ALCAM	214	broad.mit.edu	37	3	105266008	105266008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:105266008C>T	ENST00000306107.5	+	10	1620	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	ALCAM_ENST00000472644.2_Nonsense_Mutation_p.R374*|ALCAM_ENST00000389927.4_Nonsense_Mutation_p.R96*|ALCAM_ENST00000486979.2_Nonsense_Mutation_p.R323*	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	374	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATCAGGCTTCGATCTAGCCC	0.353000													23	56					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179489312	179489312	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:179489312C>T	ENST00000589042.1	-	242	44919	c.44695G>A	c.(44695-44697)Gaa>Aaa	p.E14899K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12331K|TTN_ENST00000342175.6_Missense_Mutation_p.E6026K|TTN_ENST00000460472.2_Missense_Mutation_p.E5834K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5959K|TTN_ENST00000591111.1_Missense_Mutation_p.E13258K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13258	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAACAATTTCATACTTCTTG	0.408000													14	32					0	0	0.000308642	0	0
SLC9A3	6550	broad.mit.edu	37	5	475069	475069	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:475069G>A	ENST00000264938.3	-	16	2439	c.2430C>T	c.(2428-2430)tcC>tcT	p.S810S	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.S801S	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	810						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGAGTCCACGGACTTGCTGC	0.711000													4	19					0	0	0.000602214	0	0
OR9A4	130075	broad.mit.edu	37	7	141618751	141618751	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:141618751C>T	ENST00000548136.1	+	1	135	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATATCCTTTTTGCTAT	0.393000													28	151					0	0	0.00178596	0	0
MFSD8	256471	broad.mit.edu	37	4	128870972	128870972	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:128870972G>A	ENST00000296468.3	-	4	312	c.185C>T	c.(184-186)cCa>cTa	p.P62L	MFSD8_ENST00000513559.1_Missense_Mutation_p.P17L|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Missense_Mutation_p.P17L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	62					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTGGAGATATGGCCATATGGA	0.308000													26	94					0	0	0.00128727	0	0
LCE1B	353132	broad.mit.edu	37	1	152784962	152784962	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:152784962C>T	ENST00000360090.3	+	1	516	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	14	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCCccctcccaagtgcat	0.597000													29	32					0	0	0.000409698	0	0
PRPF40A	55660	broad.mit.edu	37	2	153572514	153572514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:153572514C>T	ENST00000410080.1	-	2	752	c.211G>A	c.(211-213)Gga>Aga	p.G71R	PRPF40A_ENST00000486100.1_5'UTR	NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	98					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CTTACTTGTCCCATTGGTGGC	0.433000													26	84					0	0	0.001512	0	0
ITGA11	22801	broad.mit.edu	37	15	68624236	68624236	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:68624236G>A	ENST00000423218.2	-	14	1826	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	ITGA11_ENST00000315757.7_Silent_p.F577F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	577					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGAAGCCGTGGAAGATGTAGA	0.597000													4	12					0	0	0.00024832	0	0
ITGA6	3655	broad.mit.edu	37	2	173349959	173349959	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:173349959G>A	ENST00000375221.2	+	14	2141	c.1938G>A	c.(1936-1938)ctG>ctA	p.L646L	ITGA6_ENST00000343713.4_Silent_p.L602L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Silent_p.L607L|ITGA6_ENST00000409532.1_Silent_p.L488L|ITGA6_ENST00000409080.1_Silent_p.L607L|ITGA6_ENST00000264106.6_Silent_p.L646L			P23229	ITA6_HUMAN	integrin, alpha 6	646					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTCCAATTCTGAATTCAGATG	0.408000													16	43					0	0	0.000958276	0	0
CSMD2	114784	broad.mit.edu	37	1	34254227	34254227	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:34254227G>A	ENST00000373381.4	-	12	1813	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	CSMD2_ENST00000338325.1_Missense_Mutation_p.S154F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	506	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAATCCCAGGGAACTGCCACT	0.517000													13	38					0	0	0.00185496	0	0
AZGP1	563	broad.mit.edu	37	7	99564802	99564802	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:99564802G>A	ENST00000292401.4	-	4	857	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	241	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGCCGGCCCGAGTCCAGTGC	0.582000													8	15					0	0	0.000157383	0	0
CCDC158	339965	broad.mit.edu	37	4	77252515	77252515	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:77252515G>A	ENST00000388914.3	-	20	3064	c.2912C>T	c.(2911-2913)tCa>tTa	p.S971L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	971	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTTTCACTTGATTTGCTTCC	0.368000													28	74					0	0	0.000339439	0	0
CACNA1E	777	broad.mit.edu	37	1	181701872	181701872	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:181701872C>T	ENST00000526775.1	+	19	2758	c.2593C>T	c.(2593-2595)Ctg>Ttg	p.L865L	CACNA1E_ENST00000367570.1_Silent_p.L884L|CACNA1E_ENST00000357570.5_Silent_p.L835L|CACNA1E_ENST00000360108.3_Silent_p.L865L|CACNA1E_ENST00000367567.4_Silent_p.L491L|CACNA1E_ENST00000358338.5_Silent_p.L816L|CACNA1E_ENST00000367573.2_Silent_p.L884L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	884					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						GCCACCATGGCTGGCCAGGCC	0.672000													22	32					0	0	0.000586117	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999112	27999112	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:27999112C>T	ENST00000441525.1	-	1	454	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	114	Glu-rich.							p.E114K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCTGTtcttcctcctcccct	0.517000													11	10					0	0	0.000673444	0	0
LHFPL5	222662	broad.mit.edu	37	6	35782490	35782490	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:35782490T>A	ENST00000360215.1	+	2	957	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	LHFPL5_ENST00000373853.1_Missense_Mutation_p.F194I|LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	194						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CATCCTCTCCTTCCTGGCCTT	0.612000													13	11					0	0	0.00185496	0	0
IGF1R	3480	broad.mit.edu	37	15	99500325	99500325	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:99500325C>T	ENST00000268035.6	+	21	4369	c.3758C>T	c.(3757-3759)cCc>cTc	p.P1253L	IGF1R_ENST00000558762.1_Missense_Mutation_p.P1252L|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1253	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAGTATAACCCCAAGATGAGG	0.572000													19	35					0	0	0.00188189	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439877	150439877	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:150439877C>T	ENST00000358647.3	+	3	1017	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGAGGGCTCCTTCCACAGC	0.592000													23	43					0	0	0.000295444	0	0
NID2	22795	broad.mit.edu	37	14	52481052	52481052	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:52481052C>T	ENST00000216286.5	-	16	3372	c.3373G>A	c.(3373-3375)Ggc>Agc	p.G1125S	NID2_ENST00000541773.1_Missense_Mutation_p.G1024S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1125						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGCCTGGTGCCATTGAGGGGT	0.592000											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	56					0	0	0.00121646	0	0
C1orf87	127795	broad.mit.edu	37	1	60538226	60538226	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:60538226G>A	ENST00000371201.3	-	2	197	c.90C>T	c.(88-90)ctC>ctT	p.L30L	C1orf87_ENST00000450089.2_Silent_p.L30L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	30							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTTCTCCACGAGGTATTGAA	0.368000													16	34					0	0	0.000422831	0	0
PCF11	51585	broad.mit.edu	37	11	82880148	82880148	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:82880148C>G	ENST00000298281.4	+	8	3223	c.2771C>G	c.(2770-2772)tCa>tGa	p.S924*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	924	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CATGGTCCATCAGGGGCTGCG	0.527000													34	17					0	0	0.000692331	0	0
BCL7A	605	broad.mit.edu	37	12	122473294	122473294	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:122473294C>T	ENST00000538010.1	+	3	2902	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	BCL7A_ENST00000261822.4_Missense_Mutation_p.P78S	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	78					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGTGACCACTCCGGAGAACAG	0.557000			T	MYC	BNHL								6	12					0	0	0.000157383	0	0
CACNA1E	777	broad.mit.edu	37	1	181701873	181701873	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:181701873T>C	ENST00000526775.1	+	19	2759	c.2594T>C	c.(2593-2595)cTg>cCg	p.L865P	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L884P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L835P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L865P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L491P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L816P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L884P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	884					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						CCACCATGGCTGGCCAGGCCC	0.672000													22	31					0	0	0.000720815	0	0
PRSS1	5644	broad.mit.edu	37	7	142457353	142457353	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:142457353C>T	ENST00000486171.1	+	1	35	c.18C>T	c.(16-18)atC>atT	p.I6I	PRSS1_ENST00000311737.7_Silent_p.I6I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	6					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACTCCTGATCCTTACCTTTG	0.562000													24	47					0	0	0.00127121	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059079	79059079	+	Silent	SNP	C	C	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:79059079C>G	ENST00000388820.4	-	19	3384	c.3174G>C	c.(3172-3174)gtG>gtC	p.V1058V		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1058					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGTCCACAAACACGGGCCCCG	0.612000													14	22					0	0	0.000422831	0	0
VSIG10	54621	broad.mit.edu	37	12	118519988	118519988	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:118519988G>A	ENST00000359236.5	-	3	884	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	203	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CTGATTCAAGGCTAAACAGGT	0.517000													12	24					0	0	0.00136819	0	0
HID1	283987	broad.mit.edu	37	17	72958362	72958362	+	Missense_Mutation	SNP	G	G	A	rs142613998		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:72958362G>A	ENST00000425042.2	-	5	655	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_030630.2	NP_085133.1			HID1 domain containing																		AGGCTGGGGGGAGTGAGCGAA	0.657000													12	22					0	0	0.000308642	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120766	38120766	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:38120766C>T	ENST00000406386.3	+	7	2458	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	735					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.R735C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCGCAACAGAAC	0.572000													10	27					0	0	0.000673444	0	0
UNC13C	440279	broad.mit.edu	37	15	54707217	54707217	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:54707217G>A	ENST00000545554.1	+	18	4885	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1629K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1627K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1629					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATAAGTGCCGAAATTATGTG	0.308000													16	36					0	0	0.00121646	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839150	14839150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:14839150G>A	ENST00000261170.3	-	3	476	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	114			R -> Q (in dbSNP:rs56275235).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAGCCCATCCGTTGTGCATTC	0.438000													5	10					0	0	8.12818e-05	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844381	12844381	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:12844381C>T	ENST00000379672.5	+	8	891	c.591C>T	c.(589-591)ctC>ctT	p.L197L	ARHGAP44_ENST00000340825.3_Silent_p.L197L|ARHGAP44_ENST00000262444.9_Silent_p.L197L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	197	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGGACCAGCTCTCAGCTGATA	0.413000													11	45					0	0	0.00136819	0	0
STON1	11037	broad.mit.edu	37	2	48818852	48818852	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:48818852C>T	ENST00000309835.3	+	2	2001	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P664L|STON1_ENST00000404752.1_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P664L|STON1_ENST00000406226.1_Missense_Mutation_p.P664L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGAAATTCCCTCTGATTGG	0.438000													20	65					0	0	0.000586117	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253915	183253915	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:183253915C>A	ENST00000287713.6	-	6	793	c.459G>T	c.(457-459)ttG>ttT	p.L153F	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.L148F	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	153					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CCACCTTCCCCAAGATCTTGG	0.577000													5	69					0.000602214	0.00560132	0.000602214	1	0
HERC2P3	283755	broad.mit.edu	37	15	20643991	20643991	+	RNA	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:20643991C>T	ENST00000428453.1	-	0	3468																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGCGACCATCGATGCCTCCA	0.577000													4	29					0	0	0.000602214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	44					0	0	0.000878237	0	0
DNAH6	1768	broad.mit.edu	37	2	84780075	84780075	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:84780075G>A	ENST00000389394.3	+	10	1656	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E507K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E507K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	507	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGAAGAAGATGAATCTCTCAT	0.378000													11	38					0	0	0.000673444	0	0
ENAM	10117	broad.mit.edu	37	4	71509542	71509542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:71509542C>T	ENST00000396073.3	+	9	2680	c.2399C>T	c.(2398-2400)cCa>cTa	p.P800L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	800					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAGCTAGGCCACCAGACCAG	0.463000													9	31					0	0	0.000673444	0	0
TP63	8626	broad.mit.edu	37	3	189526123	189526123	+	Silent	SNP	G	G	A	rs151335217	byFrequency	TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:189526123G>A	ENST00000264731.3	+	4	476	c.387G>A	c.(385-387)tcG>tcA	p.S129S	TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Silent_p.S35S|TP63_ENST00000440651.2_Silent_p.S129S|TP63_ENST00000354600.5_Silent_p.S35S|TP63_ENST00000392460.3_Silent_p.S129S|TP63_ENST00000456148.1_Silent_p.S35S|TP63_ENST00000392463.2_Silent_p.S35S|TP63_ENST00000418709.2_Silent_p.S129S|TP63_ENST00000392461.3_Silent_p.S35S|TP63_ENST00000320472.5_Silent_p.S129S|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	129			S -> L.		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACGGCTCCTCGTCCACCAGTC	0.592000										HNSCC(45;0.13)			17	21					0	0	0.000422831	0	0
DNAH10	196385	broad.mit.edu	37	12	124284935	124284935	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:124284935G>A	ENST00000409039.3	+	14	2133	c.2108_splice	c.e14+1	p.R703_splice		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	703	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAATTCCTTAGGTAAAAAAAT	0.368000													8	23					0	0	0.000274275	0	0
MGAM	8972	broad.mit.edu	37	7	141759379	141759379	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:141759379G>A	ENST00000475668.2	+	32	3981	c.3927G>A	c.(3925-3927)ggG>ggA	p.G1309G	MGAM_ENST00000549489.2_Silent_p.G1309G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1309	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTGATGGGATGCGGGTCA	0.507000													33	47					0	0	0.000491102	0	0
NBEAL1	65065	broad.mit.edu	37	2	204062079	204062079	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:204062079C>T	ENST00000449802.1	+	47	7339	c.7006C>T	c.(7006-7008)Cgt>Tgt	p.R2336C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2336							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAATCAGTATCGTTCTTTTAT	0.363000													117	251					0	0	0.000781405	0	0
CDAN1	146059	broad.mit.edu	37	15	43018511	43018511	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:43018511G>A	ENST00000356231.3	-	24	3224	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1067						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCTCACCTGGCGGCACCGCA	0.642000													3	2					0	0	6.4e-05	0	0
SSH3	54961	broad.mit.edu	37	11	67077377	67077377	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:67077377C>T	ENST00000308127.4	+	12	1525	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	SSH3_ENST00000376757.5_Silent_p.I449I|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	449	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCGGCCCATCGCCCGCCCCA	0.672000													11	100					0	0	0.00185496	0	0
ORAI2	80228	broad.mit.edu	37	7	102079431	102079431	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:102079431G>A	ENST00000356387.2	+	3	263	c.28G>A	c.(28-30)Gac>Aac	p.D10N	ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Missense_Mutation_p.D10N|ORAI2_ENST00000478730.1_Missense_Mutation_p.D10N|ORAI2_ENST00000473939.1_Missense_Mutation_p.D10N	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	10						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CGTGCCTATCGACCCCTCTGC	0.602000													23	61					0	0	0.00127121	0	0
LPO	4025	broad.mit.edu	37	17	56326478	56326478	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:56326478C>T	ENST00000262290.4	+	5	699	c.383C>T	c.(382-384)cCc>cTc	p.P128L	LPO_ENST00000543544.1_Missense_Mutation_p.P69L|LPO_ENST00000421678.2_Missense_Mutation_p.P45L|LPO_ENST00000582328.1_Missense_Mutation_p.P45L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCTCCTGCTCCCGTGGTGAGA	0.597000													14	65					0	0	0.000308642	0	0
PGAP1	80055	broad.mit.edu	37	2	197784798	197784798	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:197784798G>A	ENST00000354764.3	-	2	338	c.224C>T	c.(223-225)gCt>gTt	p.A75V	PGAP1_ENST00000409475.1_Missense_Mutation_p.A75V|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.A33V	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	75					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTGTTCTTCAGCATAGGATCC	0.368000													29	67					0	0	0.00058488	0	0
DNAH7	56171	broad.mit.edu	37	2	196834754	196834754	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:196834754G>A	ENST00000312428.6	-	17	2223	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	708	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCCAAATGAATAAAATTC	0.328000													16	48					0	0	0.000566183	0	0
MYH4	4622	broad.mit.edu	37	17	10352058	10352058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:10352058C>T	ENST00000255381.2	-	32	4518	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1470					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCAAGTTCAGCCTGAGTT	0.453000													12	35					0	0	0.000308642	0	0
TMEM63C	57156	broad.mit.edu	37	14	77706863	77706863	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:77706863G>A	ENST00000298351.4	+	13	1120	c.976G>A	c.(976-978)Gac>Aac	p.D326N		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	326						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCAGCTAACGGACGAGTTCAA	0.632000													4	5					0	0	0.00024832	0	0
TMEM201	199953	broad.mit.edu	37	1	9657001	9657001	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:9657001C>T	ENST00000340305.5	+	3	328	c.319C>T	c.(319-321)Cct>Tct	p.P107S	TMEM201_ENST00000340381.6_Missense_Mutation_p.P107S|TMEM201_ENST00000377376.4_Missense_Mutation_p.P107S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	107						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCGCGACCCTTCGCAGCC	0.647000													9	23					0	0	0.000274275	0	0
KLF3	51274	broad.mit.edu	37	4	38690508	38690508	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:38690508G>A	ENST00000261438.5	+	3	665	c.360G>A	c.(358-360)ccG>ccA	p.P120P	KLF3_ENST00000514033.1_Silent_p.P120P	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	120	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TCGGCGTGCCGCTGTCCATGC	0.647000													10	36					0	0	0.000442599	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902126	206902126	+	Silent	SNP	C	C	T	rs140239057		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:206902126C>T	ENST00000367103.3	+	2	544	c.351C>T	c.(349-351)atC>atT	p.I117I	MAPKAPK2_ENST00000294981.4_Silent_p.I117I	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	117	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GCCCGCACATCGTACGGATCG	0.592000													23	25					0	0	0.000586117	0	0
CHD5	26038	broad.mit.edu	37	1	6194871	6194871	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:6194871G>A	ENST00000262450.3	-	19	3018	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	973					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGCCCCCCTTGGAGTTCAGTG	0.567000													38	68					0	0	0.000680045	0	0
HINT2	84681	broad.mit.edu	37	9	35813656	35813656	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:35813656G>A	ENST00000259667.5	-	2	248	c.207C>T	c.(205-207)ctC>ctT	p.L69L	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	69	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	p.L69L(1)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCCTCATAGAGAATGTCAG	0.562000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	11					0	0	0.000422831	0	0
KCND3	3752	broad.mit.edu	37	1	112319687	112319687	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:112319687A>G	ENST00000369697.1	-	5	1739	c.1670T>C	c.(1669-1671)aTc>aCc	p.I557T	KCND3_ENST00000315987.2_Missense_Mutation_p.I576T|KCND3_ENST00000302127.4_Missense_Mutation_p.I557T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	576						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGATGTGGATCGTGCTGAG	0.567000													8	15					0	0	0.000274275	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454688	114454688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:114454688C>T	ENST00000369563.3	+	4	1920	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	492					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCACCCCTCTTCTAGCTAC	0.522000								Other identified genes with known or suspected DNA repair function					30	65					0	0	0.000339439	0	0
MAP7D1	55700	broad.mit.edu	37	1	36645654	36645654	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:36645654C>T	ENST00000316156.4	+	15	2840	c.2387C>T	c.(2386-2388)tCc>tTc	p.S796F	MAP7D1_ENST00000373150.4_Missense_Mutation_p.S801F|MAP7D1_ENST00000373151.2_Missense_Mutation_p.S834F|MAP7D1_ENST00000373148.4_Missense_Mutation_p.S370F			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	834						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTGGTGCAGTCCCCGCAGGTC	0.587000													4	9					0	0	0.000602214	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:20389662G>A	ENST00000315915.4	+	1	922	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000													23	135					0	0	0.00047179	0	0
TFE3	7030	broad.mit.edu	37	X	48887842	48887842	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:48887842G>A	ENST00000315869.7	-	10	1814	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	519					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCCAGCCCCAGGTGGAAGGGG	0.677000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								16	20					0	0	0.00074312	0	0
DAP3	7818	broad.mit.edu	37	1	155691323	155691323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:155691323C>T	ENST00000368336.5	+	4	308	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000343043.3_Nonsense_Mutation_p.Q62*|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Nonsense_Mutation_p.Q21*|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	62					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCATGGGGATCAGCACGAGGG	0.463000													8	72					0	0	0.000157383	0	0
USP6	9098	broad.mit.edu	37	17	5076250	5076250	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:5076250G>A	ENST00000574788.1	+	38	6428	c.4198G>A	c.(4198-4200)Gaa>Aaa	p.E1400K	USP6_ENST00000250066.6_Missense_Mutation_p.E1400K|USP6_ENST00000304328.5_Missense_Mutation_p.E1083K|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1400					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						GTCTGATTACGAAAAGTACTC	0.463000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								13	21					0	0	0.000219431	0	0
MTFMT	123263	broad.mit.edu	37	15	65297207	65297207	+	Silent	SNP	T	T	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:65297207T>C	ENST00000220058.4	-	8	973	c.960A>G	c.(958-960)ctA>ctG	p.L320L		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	320						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AATAAACCAATAGTATTTGTG	0.294000													18	40					0	0	0.00152264	0	0
FAM179A	165186	broad.mit.edu	37	2	29240666	29240666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:29240666C>T	ENST00000379558.4	+	10	1555	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	402							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCCTCCTTCCCCTCCGGGG	0.602000													5	6					0	0	8.12818e-05	0	0
IRF9	10379	broad.mit.edu	37	14	24620532	24620532	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:24620532C>T	ENST00000558468.1	+	1	106	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	RNF31_ENST00000324103.6_Missense_Mutation_p.R561C|RNF31_ENST00000382687.3_Missense_Mutation_p.R410C|RNF31_ENST00000559275.1_Missense_Mutation_p.R410C																							CTGGCTGGATCGTCATGGCAA	0.597000													11	14					0	0	0.00185496	0	0
INSR	3643	broad.mit.edu	37	19	7125493	7125493	+	Missense_Mutation	SNP	C	C	T	rs121913148		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:7125493C>T	ENST00000341500.5	-	16	3062	c.3023G>A	c.(3022-3024)cGa>cAa	p.R1008Q	INSR_ENST00000302850.5_Missense_Mutation_p.R1020Q	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1020					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTTCTCTCGAGACACCTC	0.572000													71	67					0	0	0.000781405	0	0
TMEM201	199953	broad.mit.edu	37	1	9657000	9657000	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:9657000C>T	ENST00000340305.5	+	3	327	c.318C>T	c.(316-318)gaC>gaT	p.D106D	TMEM201_ENST00000340381.6_Silent_p.D106D|TMEM201_ENST00000377376.4_Silent_p.D106D	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	106						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCTGCGCGACCCTTCGCAGC	0.647000													9	25					0	0	0.000274275	0	0
LUM	4060	broad.mit.edu	37	12	91502039	91502039	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:91502039C>T	ENST00000266718.4	-	2	1172	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	240					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.E240K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388000													17	27					0	0	0.000566183	0	0
INTS1	26173	broad.mit.edu	37	7	1526267	1526267	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:1526267G>A	ENST00000389470.4	-	23	3398	c.3399C>T	c.(3397-3399)gcC>gcT	p.A1133A	INTS1_ENST00000404767.3_Silent_p.A990A			Q8N201	INT1_HUMAN	integrator complex subunit 1	990					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCACCTTCATGGCCAGCACGC	0.632000													5	16					0	0	8.12818e-05	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877725	39877725	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:39877725A>C	ENST00000530275.1	+	1	1575	c.1380A>C	c.(1378-1380)gaA>gaC	p.E460D	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	460										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTCACTGGAAAAGCTGGACC	0.468000													21	46					0	0	0.00188189	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521370	125521370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:125521370G>A	ENST00000431078.1	+	15	2717	c.2353G>A	c.(2353-2355)Ggt>Agt	p.G785S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	785	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCGTTGCTATGGTGACCGTGA	0.458000													5	22					0	0	8.12818e-05	0	0
DCAKD	79877	broad.mit.edu	37	17	43111675	43111675	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:43111675G>A	ENST00000452796.2	-	2	451	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R66C|DCAKD_ENST00000342350.5_Missense_Mutation_p.R66C|DCAKD_ENST00000310604.4_Missense_Mutation_p.R66C			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	66	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				AGGACCTTGCGATTTATGTCG	0.597000													10	23					0	0	0.000442599	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277926	41277926	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:41277926C>T	ENST00000357137.4	+	3	418	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P89S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P112S|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P112S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	112					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CAACGATATTCCCTATACTTT	0.468000													13	42					0	0	0.00185496	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515662	140515662	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:140515662G>A	ENST00000231134.5	+	1	863	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTGCACTGGACGGTGGGGC	0.547000													21	30					0	0	0.00121646	0	0
FOLR1	2348	broad.mit.edu	37	11	71907152	71907152	+	Silent	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:71907152G>A	ENST00000393679.1	+	5	1141	c.705G>A	c.(703-705)ggG>ggA	p.G235G	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.G235G|FOLR1_ENST00000312293.4_Silent_p.G235G|FOLR1_ENST00000393676.3_Silent_p.G235G			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	235					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CCATGAGTGGGGCTGGGCCCT	0.612000													63	36					0	0	0.000781405	0	0
CCDC108	255101	broad.mit.edu	37	2	219896318	219896318	+	Silent	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:219896318C>T	ENST00000341552.5	-	7	791	c.708G>A	c.(706-708)cgG>cgA	p.R236R	CCDC108_ENST00000453220.1_Silent_p.R236R|CCDC108_ENST00000441968.1_Silent_p.R236R|CCDC108_ENST00000410037.1_Silent_p.R171R|CCDC108_ENST00000409865.3_Silent_p.R225R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	236						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGGGTGGCCCGTAGGCCGA	0.612000													17	55					0	0	0.00074312	0	0
ZNF615	284370	broad.mit.edu	37	19	52496598	52496598	+	Silent	SNP	T	T	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:52496598T>C	ENST00000602063.1	-	6	2080	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	ZNF615_ENST00000594083.1_Silent_p.L588L|ZNF615_ENST00000598071.1_Silent_p.L588L|ZNF615_ENST00000391795.3_Silent_p.L582L|ZNF615_ENST00000376716.5_Silent_p.L577L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTTCCCAGTTAAGCCTTTGC	0.448000													20	47					0	0	0.000375601	0	0
LPHN1	22859	broad.mit.edu	37	19	14263412	14263412	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:14263412C>T	ENST00000340736.6	-	21	3749	c.3452G>A	c.(3451-3453)aGg>aAg	p.R1151K	LPHN1_ENST00000361434.3_Missense_Mutation_p.R1146K|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1151					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCCACATCCTCCGAATTCG	0.562000													4	7					0	0	0.00116845	0	0
NRXN2	9379	broad.mit.edu	37	11	64434811	64434811	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:64434811C>T	ENST00000265459.6	-	9	2170	c.1709G>A	c.(1708-1710)gGa>gAa	p.G570E	NRXN2_ENST00000377551.1_Missense_Mutation_p.G570E|NRXN2_ENST00000377559.3_Missense_Mutation_p.G539E|NRXN2_ENST00000409571.1_Missense_Mutation_p.G563E	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	570	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCCAGATCCCATGTCCAG	0.622000													20	44					0	0	0.00188189	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782399	62782399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:62782399C>T	ENST00000336232.2	-	2	167	c.32G>A	c.(31-33)gGa>gAa	p.G11E	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G11E|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G11E	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	11					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCATGCTTCCCACACGGTC	0.592000													14	41					0	0	0.00185496	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225411	149225411	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:149225411G>A	ENST00000309241.5	+	11	2937	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E930K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E969K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E905K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	969	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAAGCGCAACGAGCCCTCCTT	0.612000													14	10					0	0	0.00185496	0	0
GPC2	221914	broad.mit.edu	37	7	99769030	99769030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:99769030delG	ENST00000292377.2	-	9	1507	c.1340delC	c.(1339-1341)cgfs	p.P447fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	447						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCTCGGCCGGGGAGCCCCC	0.766													2	4	---	---	---	---					
TM7SF3	51768	broad.mit.edu	37	12	27167053	27167053	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:27167053delG	ENST00000343028.4	-	1	274	c.49delC	c.(49-51)ggfs	p.R17fs	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	17						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCAGCCACCCGGTGTTCGGAT	0.662													2	4	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													16	158	---	---	---	---					
GALR3	8484	broad.mit.edu	37	22	38221118	38221118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:38221118delC	ENST00000249041.2	+	2	773	c.748delC	c.(748-750)cgfs	p.P250fs		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	250					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CTGCTGGGGTCCGCACCACGC	0.771													2	4	---	---	---	---					
