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
CNOT2	4848	broad.mit.edu	37	12	70713109	70713109	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:70713109T>C	ENST00000229195.3	+	4	782	c.203T>C	c.(202-204)cTg>cCg	p.L68P	CNOT2_ENST00000418359.3_Missense_Mutation_p.L68P	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	68					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCAGGTCAGCTGTCTCAGTTT	0.333000													20	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571236	179571236	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179571236C>A	ENST00000589042.1	-	102	29589	c.29365G>T	c.(29365-29367)Gat>Tat	p.D9789Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9472Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8545Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9472	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTTCATCCACCTGTAAG	0.383000													12	57					5.16669e-11	5.43862e-11	1	1	0
TRIM24	8805	broad.mit.edu	37	7	138252324	138252324	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:138252324C>T	ENST00000343526.4	+	10	1844	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	TRIM24_ENST00000415680.2_Silent_p.N509N|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	543					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCACCAAACCAGAACATAC	0.443000													28	113					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836965	116836965	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:116836965A>C	ENST00000368599.3	+	2	794	c.743A>C	c.(742-744)aAc>aCc	p.N248T	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	248						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTTTTGAAAACAAGAGGCCA	0.468000													42	20					0	0	1	0	0
ZNF720	124411	broad.mit.edu	37	16	31766709	31766709	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:31766709G>A	ENST00000399681.3	+	6	1576	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron			Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						CCCTACATATGTAAAGAATGT	0.353000													5	7					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002344	98002344	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:98002344T>G	ENST00000355273.2	+	1	613	c.613T>G	c.(613-615)Ttt>Gtt	p.F205V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTAATGGTTTTTATTTTGTC	0.313000													14	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611639	179611639	+	Missense_Mutation	SNP	C	C	T	rs150492317		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179611639C>T	ENST00000360870.5	-	46	15710	c.15488G>A	c.(15487-15489)cGt>cAt	p.R5163H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7080	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5163H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388000													29	142					0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127452	219127452	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:219127452C>T	ENST00000522678.1	+	2	873	c.5C>T	c.(4-6)aCg>aTg	p.T2M	GPBAR1_ENST00000519574.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000479077.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000521462.1_Missense_Mutation_p.T2M	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	2						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAAGATGACGCCCAACAGC	0.662000													8	7					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684273	75684273	+	Silent	SNP	G	G	A	rs148196192		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:75684273G>A	ENST00000370855.5	-	17	1544	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC44A5_ENST00000535611.1_Silent_p.C347C|SLC44A5_ENST00000370859.3_Silent_p.C477C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438000													3	39					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764432	92764432	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:92764432G>A	ENST00000318238.4	-	5	2069	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	285										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCTCCCGAATACACTTC	0.373000													12	162					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448717	39448717	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:39448717G>T	ENST00000257408.4	+	4	2468	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	791	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGAATACATTGCCTCCAAGCA	0.672000													24	13					2.44723e-14	2.61038e-14	1	1	0
PHOSPHO1	162466	broad.mit.edu	37	17	47304069	47304069	+	Translation_Start_Site	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:47304069G>A	ENST00000310544.4	-	0	112				PHOSPHO1_ENST00000514112.1_De_novo_Start_InFrame|PHOSPHO1_ENST00000413580.1_De_novo_Start_InFrame			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTGCATTACCGTGAGCACCAC	0.562000													12	42					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30343646	30343646	+	Missense_Mutation	SNP	T	T	C	rs139463338		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr21:30343646T>C	ENST00000389194.2	-	7	1074	c.1069A>G	c.(1069-1071)Att>Gtt	p.I357V	LTN1_ENST00000361371.5_Missense_Mutation_p.I311V|LTN1_ENST00000389195.2_Missense_Mutation_p.I357V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	311							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGGCAGACAATTGGGTCACTG	0.448000													29	83					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053719	39053719	+	Missense_Mutation	SNP	T	T	A	rs34973087		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:39053719T>A	ENST00000295373.6	-	15	2878	c.2752A>T	c.(2752-2754)Aca>Tca	p.T918S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	918	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTATGGATGTCTCAGCAATG	0.403000													18	66					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804880	9804880	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:9804880A>G	ENST00000256460.3	-	4	410	c.233T>C	c.(232-234)aTt>aCt	p.I78T	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	78	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CAGGGCTACAATGTTGGGGTG	0.572000													31	44					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134334665	134334665	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:134334665C>T	ENST00000357304.4	+	10	1381	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.S442S|PRRC2B_ENST00000405995.1_Silent_p.S442S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	442							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGGTGCGTCCCGTGTGGTCC	0.637000													24	19					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6194808	6194808	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:6194808G>A	ENST00000262450.3	-	19	3081	c.2982C>T	c.(2980-2982)aaC>aaT	p.N994N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	994					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)		GGTAGGGGTGGTTGCAGCACT	0.572000													14	52					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52420322	52420322	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:52420322G>A	ENST00000420323.2	+	55	9033	c.8772G>A	c.(8770-8772)ctG>ctA	p.L2924L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2924	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCGGCTCTGGCCAGCCTGC	0.582000													4	3					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054540	29054540	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:29054540C>A	ENST00000377173.2	-	1	550	c.486G>T	c.(484-486)ttG>ttT	p.L162F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGTTAAGAGTCAAGGAAGACT	0.488000													12	22					6.40141e-05	6.56555e-05	1	1	0
GDI2	2665	broad.mit.edu	37	10	5827898	5827898	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:5827898C>T	ENST00000380191.4	-	5	794	c.504G>A	c.(502-504)atG>atA	p.M168I	GDI2_ENST00000380181.3_Missense_Mutation_p.M123I|GDI2_ENST00000380132.4_Missense_Mutation_p.M172I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	168					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACACATCTCGCATTGTGGTCT	0.363000													35	33					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384808	133384808	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:133384808C>T	ENST00000204726.3	-	5	1405	c.847G>A	c.(847-849)Gtt>Att	p.V283I	GOLGA3_ENST00000545875.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V283I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	283					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGACACAACGGACGCCGCA	0.567000													26	54					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3293233	3293233	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:3293233T>C	ENST00000382004.3	-	7	886	c.575A>G	c.(574-576)gAg>gGg	p.E192G	RFX3_ENST00000302303.1_Missense_Mutation_p.E192G|RFX3_ENST00000358730.2_Missense_Mutation_p.E192G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	192					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCTGCTGTCTCATAATTGTC	0.438000													40	3					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973530	166973530	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:166973530A>G	ENST00000367872.4	+	6	881	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I182V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	213					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTGGCCACCTATCTACTGCAA	0.343000													15	39					0	0	1	0	0
HOXB4	3214	broad.mit.edu	37	17	46655328	46655328	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:46655328C>T	ENST00000332503.5	-	1	2145	c.354G>A	c.(352-354)ccG>ccA	p.P118P	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	118	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGGGAGGCGGCGGGGGGCTGC	0.751000													16	12					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062966	55062966	+	RNA	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:55062966C>T	ENST00000526016.1	-	0	671					NR_038174.2																						CTTTATGGCACATTTTCTTCA	0.438000													9	36					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													4	48					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190261	58190261	+	Silent	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:58190261A>G	ENST00000302581.2	-	1	525	c.474T>C	c.(472-474)atT>atC	p.I158I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATATGCCCCCAATGTGGAATG	0.483000													10	50					0	0	1	0	0
SLC35A3	23443	broad.mit.edu	37	1	100483315	100483315	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:100483315G>A	ENST00000370155.3	+	7	1223	c.831G>A	c.(829-831)tcG>tcA	p.S277S	SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Silent_p.S319S|SLC35A3_ENST00000427993.2_Silent_p.S277S|SLC35A3_ENST00000370156.3_3'UTR	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	277					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CCTCTTTATCGATAATATTAT	0.294000													16	15					0	0	1	0	0
SMURF2P1	0	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs144598799	by1000genomes	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:28935540G>A	ENST00000579301.1	+	0	391																											CGTTGTGTTCGTCTTTTTCCA	0.363000													3	30					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3611478	3611478	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:3611478C>T	ENST00000520002.1	-	6	1460	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CSMD1_ENST00000539096.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R302H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R302H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R302H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R302H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	302	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATCCTTTGCGTCGGTGGTT	0.413000													11	19					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								45	38					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56926069	56926069	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:56926069G>A	ENST00000438926.2	+	20	2472	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T	SLC12A3_ENST00000262502.5_Intron|SLC12A3_ENST00000563236.1_Intron|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A814T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	806					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGTCTCTGGCGCTTGTCAGTG	0.587000													33	34					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	73					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23793986	23793986	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:23793986G>A	ENST00000354639.3	+	10	1581	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.V396M|STK31_ENST00000428484.1_Missense_Mutation_p.V373M|STK31_ENST00000433467.2_Missense_Mutation_p.V396M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	396							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTATACAAGTGTTGGATGA	0.363000													35	97					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1800065	1800065	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:1800065C>T	ENST00000539485.1	-	14	1666	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	ATP8B3_ENST00000310127.6_Missense_Mutation_p.R478H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R431H|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R425H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	478					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGCTGCGGGCCTTGGC	0.587000													10	10					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61600315	61600315	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr18:61600315A>T	ENST00000238508.3	+	7	726	c.667A>T	c.(667-669)Aag>Tag	p.K223*		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GATGTTTATGAAGAAAAAGCT	0.373000													77	47					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871432	51871432	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:51871432G>A	ENST00000371497.5	+	2	2322	c.1435G>A	c.(1435-1437)Gtg>Atg	p.V479M	TSHZ2_ENST00000329613.6_Missense_Mutation_p.V476M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V476M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	479					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAAAGTCGTGAAAAGCGA	0.413000													7	75					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278580	100278580	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:100278580G>A	ENST00000338687.7	-	7	1305	c.500C>T	c.(499-501)tCt>tTt	p.S167F	TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212F			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTCCAATGGAGACTGTCGAAG	0.448000													38	6					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41136875	41136875	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:41136875C>T	ENST00000344051.4	+	2	357	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SPINT1_ENST00000431806.1_Silent_p.P41P|SPINT1_ENST00000562057.1_Silent_p.P41P			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	41						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCCCGCGCCCCCTGGGCTGC	0.746000													5	0					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142185466	142185466	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:142185466G>A	ENST00000519811.1	+	14	2513	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I	DENND3_ENST00000424248.1_Missense_Mutation_p.V683I|DENND3_ENST00000262585.2_Missense_Mutation_p.V735I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	735										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAACCTAGGCGTTGGCAAGAT	0.522000											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	68					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987352	61987352	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:61987352C>T	ENST00000450719.3	-	3	596	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.G131E|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCCTCCTTCCCCTTCAGGGTG	0.527000													20	63					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			39	54					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134991047	134991047	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:134991047G>A	ENST00000535938.1	+	13	1633	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R489H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R489H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	489										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACAGTGTTCGTGAAGAGAAG	0.463000													49	3					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780177	9780177	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:9780177G>T	ENST00000536656.1	+	11	1450	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PIK3CD_ENST00000361110.2_Missense_Mutation_p.K414N|PIK3CD_ENST00000377346.4_Missense_Mutation_p.K449N|PIK3CD_ENST00000543390.1_Missense_Mutation_p.K116N			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	449					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CAGATGAGAAGGGCGAGCTGC	0.657000													27	4					1.03073e-24	1.1143e-24	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	51					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784068	82784068	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:82784068G>A	ENST00000333891.9	-	2	2226	c.1889C>T	c.(1888-1890)aCg>aTg	p.T630M	PCLO_ENST00000423517.2_Missense_Mutation_p.T630M	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACCTCCGTTAAATGAGG	0.383000													25	21					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96260159	96260159	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:96260159G>A	ENST00000272395.2	+	2	524	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	130						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCCCATCGAAGAGGCAGC	0.488000													16	75					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65729299	65729299	+	Silent	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:65729299G>T	ENST00000312397.5	+	1	140	c.48G>T	c.(46-48)acG>acT	p.T16T	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	16					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cggccgggacgacggcggcgg	0.697000													8	23					0.00307968	0.00307968	1	1	0
TGM2	7052	broad.mit.edu	37	20	36768010	36768010	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:36768010G>A	ENST00000361475.2	-	9	1319	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	TGM2_ENST00000536724.1_Silent_p.G322G|TGM2_ENST00000536701.1_Silent_p.G301G	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	382					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.G382G(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCTCAGGTCGCCCTCCTTGA	0.587000													25	17					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102258994	102258994	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:102258994C>G	ENST00000370345.3	-	13	1604	c.1507G>C	c.(1507-1509)Gac>Cac	p.D503H	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	503					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGCCCCACGTCACTCTTCAAC	0.517000													3	19					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54933942	54933942	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:54933942C>T	ENST00000284061.3	+	8	1348	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TCATGCTCATCGTGAGAAGGC	0.378000													11	77					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125061980	125061980	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:125061980G>C	ENST00000522917.1	+	22	3063	c.2857G>C	c.(2857-2859)Gta>Cta	p.V953L	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V953L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	953						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCCTTGCTGTATTTGAACT	0.512000													18	89					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46263984	46263984	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:46263984T>C	ENST00000510861.1	-	9	1191	c.1018A>G	c.(1018-1020)Aga>Gga	p.R340G	GABRA2_ENST00000540012.1_Missense_Mutation_p.R285G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R340G|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATCCTCTTTTGGTGAAG	0.393000													20	49					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	89016730	89016730	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr14:89016730C>T	ENST00000556564.1	-	2	316	c.32G>A	c.(31-33)cGc>cAc	p.R11H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R11H|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	11						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCCGGGTGCGTTTCAGTTT	0.537000													14	29					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046467	184046467	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:184046467C>T	ENST00000342981.4	+	26	4419	c.4005C>T	c.(4003-4005)ccC>ccT	p.P1335P	EIF4G1_ENST00000427845.1_Silent_p.P1248P|EIF4G1_ENST00000350481.5_Silent_p.P1170P|EIF4G1_ENST00000435046.2_Silent_p.P1138P|EIF4G1_ENST00000346169.2_Silent_p.P1334P|EIF4G1_ENST00000434061.2_Silent_p.P1139P|EIF4G1_ENST00000441154.1_Silent_p.P1171P|EIF4G1_ENST00000411531.1_Silent_p.P1295P|EIF4G1_ENST00000382330.3_Silent_p.P1341P|EIF4G1_ENST00000424196.1_Silent_p.P1341P|EIF4G1_ENST00000352767.3_Silent_p.P1341P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.P1247P|EIF4G1_ENST00000319274.6_Silent_p.P1334P|EIF4G1_ENST00000414031.1_Silent_p.P1294P	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1334	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGACATCCCCCACGTGTGGC	0.532000													50	82					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11738849	11738849	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:11738849G>A	ENST00000381486.2	+	15	2496	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	GREB1_ENST00000234142.5_Silent_p.K732K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	732						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACATGACGAAGCAGAGGGTGG	0.453000													6	110					0	0	1	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536995	140536995	+	Silent	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:140536995T>C	ENST00000539533.1	+	1	1419	c.1419T>C	c.(1417-1419)agT>agC	p.S473S																								ACATCGGCAGTGTCAGCGCCA	0.652000													4	76					0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132482906	132482906	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:132482906G>A	ENST00000372469.4	+	3	706	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	160						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCCAAGTTCCGCAGGAATGAA	0.672000													17	43					0	0	1	0	0
ZNF689	115509	broad.mit.edu	37	16	30616153	30616153	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:30616153G>A	ENST00000287461.3	-	3	1272	c.935C>T	c.(934-936)aCg>aTg	p.T312M	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CTTCTCGCCCGTGTGGATGCG	0.672000													3	16					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55147060	55147060	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:55147060G>A	ENST00000396331.1	+	14	2007	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	LILRB1_ENST00000418536.2_Splice_Site_p.R534R|LILRB1_ENST00000396327.3_Splice_Site_p.R551R|LILRB1_ENST00000434867.2_Splice_Site_p.R550R|LILRB1_ENST00000324602.7_Splice_Site_p.R551R|LILRB1_ENST00000396321.2_Splice_Site_p.R550R|LILRB1_ENST00000396315.1_Splice_Site_p.R551R|LILRB1_ENST00000396332.4_Splice_Site_p.R550R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Splice_Site_p.R534R|LILRB1_ENST00000427581.2_Splice_Site_p.R600R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	550					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGACACTCGGGTGAGACCCC	0.607000										HNSCC(37;0.09)			24	8					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102743629	102743629	+	RNA	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:102743629C>T	ENST00000532855.1	-	0	412							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CATACGGGCCCCCCTGGCATT	0.502000													9	16					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74964117	74964117	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:74964117T>A	ENST00000315127.4	-	3	346		c.e3-2		EDC3_ENST00000426797.3_Splice_Site|EDC3_ENST00000568176.1_Splice_Site	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	p.?(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCACCTGCCCTGAAATACACA	0.408000													46	5					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058240	114058240	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:114058240C>T	ENST00000462705.1	-	12	2440	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	ZBTB20_ENST00000393785.2_Missense_Mutation_p.R540H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R540H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R613H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R540H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAGAAGGAGCGCCAACAGAT	0.498000													27	31					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104228827	104228827	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:104228827C>G	ENST00000238936.4	+	3	278	c.41C>G	c.(40-42)cCc>cGc	p.P14R	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.P14R|TMEM180_ENST00000450947.2_3'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	14						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGGTCTGCCCACAGCTGTG	0.617000													15	20					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147295	95147295	+	Silent	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:95147295A>G	ENST00000354268.4	+	3	289	c.216A>G	c.(214-216)ccA>ccG	p.P72P	SMARCAD1_ENST00000457823.2_Silent_p.P72P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	72					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGAAACTCCAGATAATGAAA	0.313000													26	44					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45702022	45702022	+	Splice_Site	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr14:45702022T>C	ENST00000310806.4	-	7	1808	c.1350A>G	c.(1348-1350)ggA>ggG	p.G450G		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	450					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AATTTGGATATCCTATTTAAG	0.259000													7	18					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69601201	69601201	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:69601201C>T	ENST00000357308.4	-	2	230	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.E18K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	18	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCCAGGATTTCTCGTCTCGTT	0.328000													27	98					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588985	119588985	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:119588985C>T	ENST00000267260.4	+	10	1628	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	414	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGCTTCCCCCAGGTACAC	0.542000													27	22					0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													4	9	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							acccatgcacttaaagttaaaa	0.361													4	6	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141557702	141557703	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:141557702_141557703delGT	ENST00000220592.5	-	13	1724_1725	c.1612_1613delAC	c.(1612-1614)acgfs	p.T538fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.T538fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCCCAGCACCGTGTCTCCCACG	0.634													25	28	---	---	---	---					
GDA	9615	broad.mit.edu	37	9	74764597	74764600	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:74764597_74764600delAAGT	ENST00000358399.3	+	1	215_216	c.122_123delAAGT	c.(121-123)aaa>a	p.K41fs	GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_Splice_Site_p.K16fs|GDA_ENST00000376986.1_Splice_Site_p.S1fs|GDA_ENST00000238018.4_Splice_Site_p.K41fs	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	41					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GACAGCGGCAAAGTAAGCAGGCGC	0.686													8	6	---	---	---	---					
OR4A16	81327	broad.mit.edu	37	11	55111376	55111376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:55111376delG	ENST00000314721.2	+	1	750	c.700delG	c.(700-702)gccfs	p.A234fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GAGGCATAAAGCCCTGCCTAC	0.413													21	66	---	---	---	---					
CNTN1	1272	broad.mit.edu	37	12	41423022	41423025	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:41423022_41423025delGTAA	ENST00000551295.2	+	23	3097		c.e23+1		CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000347616.1_Splice_Site	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAATTTCAGGTAAGTGAGTCATT	0.456													53	35	---	---	---	---					
LINC01566	283914	broad.mit.edu	37	16	34619315	34619315	+	RNA	DEL	G	G	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:34619315delG	ENST00000569242.1	+	0	1748					NR_027079.1																						TCACTGGAGTGGCAGGACGGG	0.483													2	4	---	---	---	---					
NAE1	8883	broad.mit.edu	37	16	66851378	66851379	+	In_Frame_Ins	INS	-	-	ATG			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:66851378_66851379insATG	ENST00000379463.2	-	10	807_808	c.615_616insCAT	c.(613-618)catact>catCATact	p.205_206insH	NAE1_ENST00000394074.2_In_Frame_Ins_p.122_123insH|NAE1_ENST00000290810.3_In_Frame_Ins_p.211_212insH|NAE1_ENST00000359087.4_In_Frame_Ins_p.214_215insH	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	211					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATCCATGGAGTATGACTGTGGT	0.287													19	32	---	---	---	---					
LPPR3	79948	broad.mit.edu	37	19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:813360_813362delTCC	ENST00000359894.2	-	7	1512_1514	c.1449_1451delGGA	c.(1447-1452)gaggaa>gaa	p.483_484EE>E	LPPR3_ENST00000520876.3_In_Frame_Del_p.455_456EE>E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		455						integral to membrane	phosphatidate phosphatase activity										ctcctcctcttcctcctcctcct	0.759													2	4	---	---	---	---					
TLE2	7089	broad.mit.edu	37	19	3028803	3028803	+	Splice_Site	DEL	T	T	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:3028803delT	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTG	0.622													51	63	---	---	---	---					
GOLGA2P9	440518	broad.mit.edu	37	19	22779215	22779215	+	RNA	DEL	G	G	-	rs113336402		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:22779215delG	ENST00000600260.1	+	0	157					NR_033899.1																						CAGCAGCAAAGAAAAAGGTAC	0.612													4	3	---	---	---	---					
