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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													12	447					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21599227	21599227	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000328843.6	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000409508.3_Silent_p.P233P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	233	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGGCCACCGTCAAACGAAA	0.308000									Kartagener syndrome				28	192					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839374	62839374	+	Silent	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:62839374A>G	ENST00000536311.1	+	7	1189	c.825A>G	c.(823-825)gaA>gaG	p.E275E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E275E			Q01538	MYT1_HUMAN	myelin transcription factor 1	275	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D274_E275delDE(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggatgaagaagaggaag	0.572000													3	62					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974704	21974704	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974704C>A	ENST00000304494.5	-	1	393	c.123G>T	c.(121-123)ccG>ccT	p.P41P	CDKN2A_ENST00000446177.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	41					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGTAACTATTCGGTGCGTTGG	0.697000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			285	190					5.25247e-111	5.89803e-111	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153138054	153138054	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	64	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTGCACTTCGGGCTTGCCA	0.602000													67	158					0	0	1	0	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													4	141					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T	rs138677674		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	122					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													14	437					0.000308642	0.000316515	1	1	0
RBM27	54439	broad.mit.edu	37	5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	981					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAACAGTTGGAGGATTCATT	0.443000													56	173					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284525	118284525	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652000													118	84					3.25069e-62	3.62994e-62	1	1	0
TDG	6996	broad.mit.edu	37	12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	242					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAGTAAAGAAGTTTTTGGAGT	0.284000								Base excision repair (BER), DNA glycosylases					15	573					1.02788e-11	1.0817e-11	1	1	0
KIR3DX1	0	broad.mit.edu	37	19	55048290	55048290	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55048290C>T	ENST00000335056.3	+	5	895	c.857C>T	c.(856-858)aCg>aTg	p.T286M	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCGTGCAACGCCAGTCCCT	0.562000													172	613					0	0	1	0	0
HMGN2P46	0	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													17	83					1.50538e-07	1.57595e-07	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													15	100					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													7	1002					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54184132	54184132	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:54184132G>T	ENST00000375180.2	-	3	1075	c.1019C>A	c.(1018-1020)gCa>gAa	p.A340E	FAM120C_ENST00000328235.4_Missense_Mutation_p.A340E	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	340										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTAAGTGATGCAAGAGGATG	0.388000													18	26					9.7654e-05	0.000100659	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478000													175	340					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													11	474					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													5	80					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575585	120575585	+	Missense_Mutation	SNP	C	C	T	rs115993320	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:120575585C>T	ENST00000300648.6	-	49	6439	c.6427G>A	c.(6427-6429)Gta>Ata	p.V2143I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2143					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCCTCTACGGAGAGGATC	0.582000													27	91					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													5	167					0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGTCTTCCCTGGAGATTTGA	0.597000													85	393					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													12	51					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	730	PH 1.			G -> C (in Ref. 1; CAI46132).		cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGGTGGTGAATTACTT	0.363000													176	404					7.56309e-61	8.3988e-61	1	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3140385	3140385	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCGCAGTCCGCGCAGATGA	0.632000													93	346					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540781	133540781	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1201							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACCCGCTGTGATCTCCATGC	0.478000													39	276					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000335154.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAGCCGAGCGGCCAGCCTTG	0.582000													50	251					0	0	1	0	0
ZNF37BP	0	broad.mit.edu	37	10	43019068	43019068	+	RNA	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:43019068A>G	ENST00000473592.1	-	0	2491																											ACCTACTGAGACAAGGTGGCT	0.438000													64	296					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276064	186276064	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276064G>T	ENST00000445192.2	+	7	1258	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.657000													6	607					7.48243e-07	7.79258e-07	1	1	0
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612000													6	969					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3402	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438000													88	366					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													8	369					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846121	18846121	+	RNA	SNP	C	C	T	rs4302302		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617000													5	165					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	939					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGCCGAGGCCGACGTCGCAG	0.667000													22	80					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332226	107332226	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:107332226G>A	ENST00000335040.1	+	1	778	c.778G>A	c.(778-780)Gca>Aca	p.A260T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CTTCATGTACGCAAAGCCTGA	0.458000													5	302					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													5	46					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612000													9	304					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	573					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						AGAAAACAAAAAGTTAGAAGA	0.353000													72	333					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1467					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTTTCTCCGGGCTGCTTGC	0.577000													55	281					0	0	1	0	0
XRCC3	7517	broad.mit.edu	37	14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	160					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGTGCGCAGCCGCGGCTGCTG	0.622000								Direct reversal of damage;Homologous recombination					5	33					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	259					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													4	260					0.150653	0.150653	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													5	409					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73786204	73786204	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:73786204G>A	ENST00000264448.6	+	15	10427	c.10316G>A	c.(10315-10317)aGg>aAg	p.R3439K	ALMS1_ENST00000409009.1_Missense_Mutation_p.R3397K	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3439					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGATCCATAGGAAGAAGACA	0.463000													33	209					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52672018	52672018	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCAGGCTCACCGTGAGGGGA	0.453000													82	485					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	108	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCCAACCTTCGACATCTCTG	0.463000									Familial Hemophagocytic Lymphohistiocytosis				172	256					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677777	73677777	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:73677777A>G	ENST00000264448.6	+	8	4231	c.4120A>G	c.(4120-4122)Act>Gct	p.T1374A	ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1374	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.T1374A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAACTGTAACCTC	0.443000													5	563					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													8	492					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			86	114					0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:167796320G>A	ENST00000366827.2	-	2	253	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D			Q12799	TCP10_HUMAN	t-complex 10	41						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652000													5	107					0	0	1	0	0
FAM86DP	0	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													9	191					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					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.C432C(6)		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)					GAACATCCTGCGCCCAGCGGG	0.582000													7	525					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403563	143403563	+	RNA	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453000													4	75					0.0215528	0.0216605	1	1	0
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642000													31	211					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231396259	231396259	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:231396259A>G	ENST00000366647.4	+	3	437	c.268A>G	c.(268-270)Aag>Gag	p.K90E	GNPAT_ENST00000366646.3_Missense_Mutation_p.K29E	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	90					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTAGCTTTCCAAGGAATCCCT	0.403000													11	1181					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					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						CCCGGTCAGCACCCCCGGGCC	0.716000													11	54					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593364	131593364	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000543617.1_Silent_p.V180V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	661					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCATGGTGATCAAGGTCT	0.612000													303	227					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465247	10465247	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:10465247T>C	ENST00000382483.3	-	4	6584	c.6361A>G	c.(6361-6363)Act>Gct	p.T2121A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2121					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCTTCAGTCTCTGGGGCC	0.622000													9	994					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41083342	41083342	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:41083342G>A	ENST00000291842.5	+	3	230	c.181G>A	c.(181-183)Gga>Aga	p.G61R	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	61	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGACCGGAGCAGTGAG	0.607000													5	284					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433000													156	72					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													5	174					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685548	44685548	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000454036.1	+	24	3268	c.3192C>T	c.(3190-3192)aaC>aaT	p.N1064N	SLC12A5_ENST00000243964.3_Silent_p.N1041N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1064					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493000													59	401					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428000													7	529					1.58986e-06	1.64723e-06	1	1	0
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557000													5	291					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774448	89774448	+	Silent	SNP	G	G	A	rs77759231	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:89774448G>A	ENST00000448984.1	+	8	1418	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	363	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						TGTATCGGAAGGAGAAGAATC	0.453000													4	148					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438000													194	657					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130834500	130834500	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:130834500A>C	ENST00000245255.3	+	9	1304	c.1032A>C	c.(1030-1032)gaA>gaC	p.E344D		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	344	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTTCTTAGAATACTACAGGA	0.408000													47	214					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657000													9	617					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000310961.5	+	5	647	c.229C>T	c.(229-231)Cga>Tga	p.R77*	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						centrosome|focal adhesion|nucleolus	protein binding	p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294000													97	400					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													10	349					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCGCCGCGGCCCTGCTC	0.617000													120	279					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	344	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCAGTGGATAATTATCCTG	0.557000													35	108					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	rs150681488		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000383699.3	+	6	1226	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	191	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGGACTTCCGAGTGGACCGG	0.433000													94	193					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													8	596					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000358392.2	-	45	3796	c.3479C>G	c.(3478-3480)cCt>cGt	p.P1160R	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1148	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)		GGGACCGGGAGGGCCCTGCAG	0.448000													32	99					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	452				S -> Y (in Ref. 1; AAA36139).	synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483000													180	1115					2.18299e-53	2.41089e-53	1	1	0
TMEM132E	124842	broad.mit.edu	37	17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	62						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGAGGCGCGGCCCCCGTC	0.731000													8	39					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													6	286					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	89016677	89016677	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	29	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTATTAAGCAGTTGGATCCGG	0.567000													87	351					0	0	1	0	0
ARL14EP	120534	broad.mit.edu	37	11	30358266	30358266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:30358266G>A	ENST00000282032.3	+	4	922	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		GCTGAATGCCGCTGTGACCGC	0.458000													6	623					0	0	1	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	246					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CTTGGCCTGCCGTTTCATCTT	0.711000													12	72					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200539058	200539058	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:200539058C>G	ENST00000367350.4	-	23	4080	c.3642G>C	c.(3640-3642)ttG>ttC	p.L1214F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1214	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTGAAGAATGCAAATTCTTAA	0.338000													5	543					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													12	1495					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662000													8	484					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509737	171509737	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:171509737C>T	ENST00000367742.3	+	16	3374	c.3132C>T	c.(3130-3132)gtC>gtT	p.V1044V	PRRC2C_ENST00000338920.4_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000426496.2_Silent_p.V1042V			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1042							protein C-terminus binding										CCGAAAAGGTCACTGAAAAAG	0.468000													146	222					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48688878	48688878	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48688878T>A	ENST00000544264.1	-	14	6380	c.6100A>T	c.(6100-6102)Agc>Tgc	p.S2034C	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2034C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2034	EGF-like 7; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGTTGGGCTCCCCCACCAG	0.617000													48	212					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13283751	13283751	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:13283751G>A	ENST00000332995.7	+	11	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	PHACTR1_ENST00000379335.3_Missense_Mutation_p.R100H|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R100H|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R391H|RP1-257A7.4_ENST00000606150.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	536						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GACTATGACCGCAGGGCAGAT	0.602000													6	430					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111102671	111102671	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	403	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGCCTGCCGGGTGAGATGG	0.632000													136	250					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220312852	220312852	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:220312852C>T	ENST00000312358.7	+	4	1104	c.972C>T	c.(970-972)ccC>ccT	p.P324P	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.P220P|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	324	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCCGGGACCCCCGGCCCAGC	0.741000													5	58					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2094					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGACAAGCACGGAGGAGCCC	0.522000													26	146					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													7	335					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	10					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATACAGAGTCCTGCAGACT	0.463000													112	205					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													6	197					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823870	70823870	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:70823870G>A	ENST00000373695.1	+	7	1280	c.743G>A	c.(742-744)aGc>aAc	p.S248N	ACRC_ENST00000373696.3_Missense_Mutation_p.S248N			Q96QF7	ACRC_HUMAN	acidic repeat containing	248	Asp/Ser-rich.					nucleus		p.S248N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.552000													5	417					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11464363	11464363	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:11464363G>A	ENST00000423059.3	-	16	3594	c.3343C>T	c.(3343-3345)Cgg>Tgg	p.R1115W	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1115	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGTTCTCCCGCATATTCACA	0.478000										HNSCC(18;0.044)			9	1393					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													7	608					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254021	39254021	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:39254021C>T	ENST00000333822.4	-	1	372	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	106	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						cagctggacacacagcagctg	0.672000													5	206					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													6	603					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													4	112					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101802811	101802811	+	Silent	SNP	C	C	T	rs146647282		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGCCGGACGGGTTGCCTG	0.587000													212	206					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597000													12	204					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:21806606T>G	ENST00000318220.6	+	14	2151	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468000													6	414					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000310961.5	+	24	4622	c.4204C>A	c.(4204-4206)Cca>Aca	p.P1402T	LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1444						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATGGATATCCAGAGCAGGT	0.463000													58	199					1.17673e-23	1.27163e-23	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72346823	72346823	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:72346823A>G	ENST00000299687.5	+	1	3848	c.3848A>G	c.(3847-3849)aAc>aGc	p.N1283S	ZNF407_ENST00000309902.6_Missense_Mutation_p.N1283S|ZNF407_ENST00000582337.1_Missense_Mutation_p.N1283S|ZNF407_ENST00000577538.1_Missense_Mutation_p.N1283S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGGGTCAGAACAGAGTTGCA	0.507000													3	62					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3017								p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483000													6	560					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	112					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	72	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTGGGTGCCCGTGTGACCCG	0.667000													102	301					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153026597	153026597	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.T110T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498000													108	333					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403055	248403055	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATGGTGTCGGCCTTCTACA	0.488000													65	385					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	436	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCCCGGATTGCGCCC	0.667000													38	95					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403509	79403509	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:79403509G>T	ENST00000370742.3	-	6	806	c.743C>A	c.(742-744)aCa>aAa	p.T248K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	248					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGTTGAATTTGTATCAAACTC	0.378000													87	464					6.65942e-36	7.27469e-36	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	697					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCCAGACCCCACAGAGAAGA	0.532000													104	424					3.95083e-50	4.33944e-50	1	1	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													6	288					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	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)				TGGTTTGGGCGTAAGCATGGC	0.463000													7	854					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:74287140C>T	ENST00000262765.5	-	4	3349	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1057							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTTTGGCCGGCCTGCTC	0.532000													6	497					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													7	1021					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711436	195711436	+	RNA	SNP	C	C	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:195711436C>G	ENST00000427841.1	-	0	511					NR_003264.2																						AACAGACCACCAGAGCACCCA	0.572000													11	223					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:135024207G>A	ENST00000304613.3	+	21	3908	c.3887G>A	c.(3886-3888)cGc>cAc	p.R1296H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1296	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.R1296H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCGACCGCATCAACAGC	0.622000													5	443					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203820463	203820463	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:203820463C>T	ENST00000320443.8	+	7	1667	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CARF_ENST00000545253.1_Silent_p.C120C|CARF_ENST00000545262.1_Silent_p.C132C|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Silent_p.C106C|CARF_ENST00000428585.1_Silent_p.C132C|CARF_ENST00000456821.2_Silent_p.C196C|CARF_ENST00000402905.2_Silent_p.C208C|CARF_ENST00000444724.1_Silent_p.C208C|CARF_ENST00000438828.2_Silent_p.C208C|CARF_ENST00000434998.1_Silent_p.C106C					calcium responsive transcription factor																		TATGGGCCTGCCGTCTTAGGA	0.413000													5	393					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183433028	183433028	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183433028G>A	ENST00000305135.5	+	2	273	c.78G>A	c.(76-78)cgG>cgA	p.R26R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	26					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.R26R(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAATAAGCGGCATAAAGCAA	0.398000													6	524					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21556023	21556023	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000298925.5	+	17	1986	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	NELL1_ENST00000325319.5_Silent_p.D526D|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Silent_p.D583D			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTTCCATGACGATGGGACCT	0.527000													83	280					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100405553	100405553	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	737						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGAAGGCTCGGACGGAACCG	0.582000													77	264					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			69	238					2.34191e-24	2.54445e-24	1	1	0
PRR5L	79899	broad.mit.edu	37	11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	214										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGCTGGTGAAGCAAGTG	0.527000													76	335					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56699281	56699281	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:56699281C>T	ENST00000260129.5	+	4	1301	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	275					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACTTACACATCTAAAACAGAA	0.363000													94	415					0	0	1	0	0
MRP63	78988	broad.mit.edu	37	13	21751133	21751133	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	26										kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGCCGCGGTTCGTGTCGTTGC	0.662000													47	295					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619752	619752	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:619752G>A	ENST00000255622.6	+	1	380	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	PDE6B_ENST00000496514.1_Missense_Mutation_p.V113M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	113	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCTTTTCAGCGTGCAGCCGGA	0.687000													3	27					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													10	1763					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000589042.1	-	358	104023	c.103799G>A	c.(103798-103800)tGg>tAg	p.W34600*	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32959							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGTTCCCATCTTGAAAG	0.428000													76	173					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350298	100350298	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100350298C>T	ENST00000542585.1	+	0	2718				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498000													7	958					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGAGAGAGCCTCTGAGGAAA	0.443000													36	270					2.42023e-17	2.58759e-17	1	1	0
RP11-3P17.4	0	broad.mit.edu	37	3	161147301	161147301	+	RNA	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:161147301A>G	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						ACACCTTTCAACACTGCCTTC	0.552000													6	403					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													10	467					0	0	1	0	0
AC005562.1	0	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													4	220					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	rs142118461		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:43773549C>T	ENST00000244293.7	-	1	101	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy	extracellular region		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622000													7	783					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													16	547					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													18	197					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974001	49974001	+	Silent	SNP	G	G	A	rs148894043	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299000													104	397					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	974					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCTGAACCAGTTCTGTCAC	0.617000													100	87					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768459	88768459	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:88768459C>T	ENST00000444431.1	+	0	3059				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GTTCCAATGGCGTGCTCACCT	0.433000													8	1093					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50125491	50125491	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:50125491G>A	ENST00000378302.2	-	8	1085	c.825C>T	c.(823-825)agC>agT	p.S275S	RCBTB1_ENST00000258646.3_Silent_p.S275S|RCBTB1_ENST00000546015.1_Silent_p.S275S	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	275					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGTGTGCTGGGCTTAGCAGGT	0.522000													11	416					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	234	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGTCCAGCCAGCAGCGACC	0.697000													51	60					0	0	1	0	0
IGHV3-43	0	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:106926482T>C	ENST00000434710.1	-	0	139																											CCAGCTGCACTTCACACTGGA	0.527000													7	682					0	0	1	0	0
CXADRP3	0	broad.mit.edu	37	18	14479154	14479154	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:14479154T>C	ENST00000581457.1	-	0	754					NR_024076.1																						GCATGGCAGATAGGTAGTTTC	0.488000													35	108					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713239	142713239	+	RNA	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:142713239T>A	ENST00000369381.2	-	0	1366																											TCTTCTGCATTTTCATACATC	0.383000													65	171					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974702	21974702	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974702T>A	ENST00000304494.5	-	1	395	c.125A>T	c.(124-126)aAt>aTt	p.N42I	CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCGTAACTATTCGGTGCGTT	0.687000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			301	204					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204214837	204214837	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:204214837C>T	ENST00000272203.3	-	14	2254	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	PLEKHA6_ENST00000414478.1_Silent_p.R666R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	646										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTGGATTTGCCGGTTCAGCA	0.582000													7	621					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													5	73					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333066	57333066	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57333066C>T	ENST00000326441.9	-	7	985	c.622G>A	c.(622-624)Gac>Aac	p.D208N	ZIM2_ENST00000221722.5_Missense_Mutation_p.D83N|PEG3_ENST00000593695.1_Missense_Mutation_p.D82N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D83N|PEG3_ENST00000423103.2_Missense_Mutation_p.D208N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D83N|PEG3_ENST00000598410.1_Missense_Mutation_p.D83N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D83N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D83N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	208					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCTCTGTCCATTTCAAAG	0.512000													123	990					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432092	6432092	+	Missense_Mutation	SNP	C	C	A	rs145320037		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:6432092C>A	ENST00000389906.2	-	2	585	c.486G>T	c.(484-486)gaG>gaT	p.E162D	APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000533407.1_Intron	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcctcctcctcct	0.637000													4	143					0.00909568	0.00918709	1	1	0
AC006293.3	0	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350																											TACAGATGCTACGGTGCACAC	0.677000													7	359					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373000													6	452					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50119105	50119105	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50119105C>T	ENST00000418929.2	+	9	5138	c.5126C>T	c.(5125-5127)aCg>aTg	p.T1709M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	888							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGAAAAGACGACATCTGAG	0.642000													14	90					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34856959	34856959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:34856959G>A	ENST00000431794.3	-	22	2719	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	MYO19_ENST00000268852.9_Missense_Mutation_p.P533S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	733						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGGGGGCTGGCATGGCCTCA	0.572000													6	648					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													10	268	---	---	---	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgc>tg	p.CL132del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	132					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													9	229	---	---	---	---					
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)del	p.K396del	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													15	478	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													9	944	---	---	---	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													7	526	---	---	---	---					
SLC25A24	29957	broad.mit.edu	37	1	108700183	108700183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:108700183delT	ENST00000565488.1	-	5	789	c.570delA	c.(568-570)aafs	p.K190fs	SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	190					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.K171fs*29(1)|p.K190fs*29(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATTGTCCGGATTTTTTTTCGT	0.453													9	523	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142699961	142699961	+	RNA	DEL	T	T	-	rs74315780		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:142699961delT	ENST00000369381.2	-	0	2077																											tatatatatatatatCCAAAA	0.259													3	5	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210024	143210025	+	RNA	INS	-	-	AA			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:143210024_143210025insAA	ENST00000412204.2	-	0	1045_1046				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCTAGACTGATGATTCAATTTC	0.381													7	277	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													8	83	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													10	88	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	1320	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				13	537	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													17	1165	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													10	694	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													15	323	---	---	---	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:167385016_167385018delCCA	ENST00000367862.5	+	16	2472_2474	c.2237_2239delCCA	c.(2236-2241)tcc>t	p.ST746del	POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000420254.3_Intron	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	734					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													11	1208	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													11	651	---	---	---	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)caa>ca	p.QQ954del	INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													12	1332	---	---	---	---					
PARP1	142	broad.mit.edu	37	1	226564861	226564861	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:226564861delT	ENST00000366794.5	-	13	2032	c.1889delA	c.(1888-1890)atfs	p.N630fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	630					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTCGTGAAATTTTTGGAGTG	0.453								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					7	1618	---	---	---	---					
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)ttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTTCAAGCTCAAAAAAAATGC	0.562													9	546	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													9	441	---	---	---	---					
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)tafs	p.I410fs	SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343													8	317	---	---	---	---					
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:38178783delT	ENST00000407257.1	+	2	572	c.425delT	c.(424-426)atfs	p.I142fs	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		AAGAGTGCCATTTTTTTTGAT	0.333													9	456	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)cttfs	p.L1805fs	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401													8	805	---	---	---	---					
CCDC104	112942	broad.mit.edu	37	2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagfs	p.TE312fs	CCDC104_ENST00000407816.3_Frame_Shift_Del_p.TE283fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.TE337fs			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	312										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGAAATGACAGAGAAACCAGA	0.332													28	134	---	---	---	---					
OTX1	5013	broad.mit.edu	37	2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:63283259_63283261delCCA	ENST00000366671.3	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggc>gg	p.GH291del	OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	291	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.640													11	462	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													7	513	---	---	---	---					
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													13	749	---	---	---	---					
CSRNP3	80034	broad.mit.edu	37	2	166532950	166532950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:166532950delA	ENST00000314499.7	+	6	913	c.537delA	c.(535-537)acfs	p.T179fs	CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs|CSRNP3_ENST00000342316.4_Frame_Shift_Del_p.T179fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTTTGCCAACAAAAAAACGAA	0.478													7	1556	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168104998	168105000	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:168104998_168105000delCCT	ENST00000409195.1	+	9	7185_7187	c.7096_7098delCCT	c.(7096-7098)del	p.P2370del	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2195					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						GTTTCTGCCGCCTCCTCCTCCTC	0.468													7	668	---	---	---	---					
MLTK	0	broad.mit.edu	37	2	174097115	174097117	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:174097115_174097117delGCT	ENST00000375213.3	+	14	1209_1211	c.1131_1133delGCT	c.(1129-1134)cgg>cg	p.RL377del	MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CAGGGAAGCGGCTGCTGCTGCTG	0.433													9	1191	---	---	---	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													15	619	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-	rs140194798		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)atfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	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						ATCGCTAATATTTTTTTTTAC	0.418													8	439	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660886	227660886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:227660886delG	ENST00000305123.4	-	1	3589	c.2569delC	c.(2569-2571)ggfs	p.R857fs		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	857					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662													66	363	---	---	---	---					
CCL20	6364	broad.mit.edu	37	2	228680168	228680168	+	Splice_Site	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:228680168delA	ENST00000358813.4	+	2	134		c.e2-1		CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Intron			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20						cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TTTTTTTTTTAGCAGCAAGCA	0.373													7	661	---	---	---	---					
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:234394236_234394237insT	ENST00000251722.6	-	30	3558_3559	c.3441_3442insA	c.(3439-3444)aaaagafs	p.R1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337													7	298	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000498729.2	-	24	2381_2392	c.2135_2146delAGTGTGAGCTGG	c.(2134-2148)gcg>g	p.ECELA712del	KIF1A_ENST00000320389.7_In_Frame_Del_p.ECELA703del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	703					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632													32	168	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													8	703	---	---	---	---					
PARP3	10039	broad.mit.edu	37	3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)del	p.N80del	PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855).	DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACATCGAGAACAACAACAACA	0.596													7	922	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77657037	77657038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:77657037_77657038insC	ENST00000461745.1	+	21	4125_4126	c.3225_3226insC	c.(3223-3228)ccccccfs	p.PP1075fs	ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431													7	267	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													10	266	---	---	---	---					
GABRR3	200959	broad.mit.edu	37	3	97744540	97744540	+	RNA	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:97744540delA	ENST00000472788.1	-	0	127					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CCCCAAAGGGAAAAAAAAAAC	0.373													7	125	---	---	---	---					
FAM86JP	0	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													7	511	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													7	455	---	---	---	---					
TRIM59	286827	broad.mit.edu	37	3	160156368	160156368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:160156368delT	ENST00000543469.1	-	2	818	c.604delA	c.(604-606)gtfs	p.S202fs	RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs|TRIM59_ENST00000309784.4_Frame_Shift_Del_p.S202fs			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202						integral to membrane|intracellular	zinc ion binding	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTAGGAAACTTTTTTTTTTC	0.343													21	514	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194147850	194147850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:194147850delA	ENST00000439040.1	-	29	3870	c.3079delT	c.(3079-3081)ggfs	p.W1027fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGTTTGACCCAAAAAAAACCC	0.383													7	496	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195595229	195595229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:195595229delG	ENST00000333602.6	-	12	2512	c.1895delC	c.(1894-1896)cgfs	p.P633fs	TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	633	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATAGGCGGGCGGGGGGGGCAG	0.726													7	392	---	---	---	---					
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515													7	648	---	---	---	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaa>ga	p.EE196del	HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													8	376	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													8	503	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44																											GGCCAGCCTCCCTCCTCCTCCTC	0.586													11	553	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26428451	26428451	+	RNA	DEL	A	A	-	rs139821417		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26428451delA	ENST00000466808.2	+	0	1304																											gtgtctaattaaaaaaaaaaa	0.448													3	4	---	---	---	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)cfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													7	345	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													10	693	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					7	908	---	---	---	---					
WTAP	9589	broad.mit.edu	37	6	160163179	160163180	+	Splice_Site	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:160163179_160163180insT	ENST00000358372.4	+	4	1902		c.e4+1		SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATCTTAACTGTAAGTTTGAGT	0.282													66	232	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tct>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.640													7	47	---	---	---	---					
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:24705666delA	ENST00000396475.2	+	9	1209	c.910delA	c.(910-912)aafs	p.K308fs	MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	308					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299													7	1441	---	---	---	---					
ZNF733P	0	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1																						GCATAGGGTTTTCTCTAGTATG	0.421													10	506	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150713	65150714	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:65150713_65150714insA	ENST00000430126.2	+	0	694_695																											CATACCATGAGAAAATCTCTAA	0.436													7	124	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													17	38	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72286070	72286071	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72286070_72286071insA	ENST00000438125.1	-	0	234							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CCTAATAGGACAAAAAAAAACT	0.381													8	348	---	---	---	---					
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:77569581delT	ENST00000416283.2	+	12	1726	c.1600delT	c.(1600-1602)ttfs	p.F535fs	PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303													10	876	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:82595446_82595447insT	ENST00000423517.2	-	4	3994_3995	c.3657_3658insA	c.(3655-3660)aataatfs	p.NN1219fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1158					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						TCAGGGATTAGTTTTTTTTCTT	0.386													8	1299	---	---	---	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:91752494delT	ENST00000003100.8	-	7	1191	c.1026delA	c.(1024-1026)aafs	p.K342fs	CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													7	1107	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)del	p.E87del	PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606													8	804	---	---	---	---					
LRRC17	10234	broad.mit.edu	37	7	102584992	102584993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:102584992_102584993insA	ENST00000339431.4	+	4	1559_1560	c.1264_1265insA	c.(1264-1266)aaafs	p.K422fs	LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	422					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGATGAATGGGAAAAAAAACAT	0.337													8	658	---	---	---	---					
WNT2	7472	broad.mit.edu	37	7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)tfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463													8	807	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													7	100	---	---	---	---					
EPHB6	0	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)ggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682													7	1332	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aafs	p.K1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	853	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													10	749	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T	rs7841915	by1000genomes	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aatggcfs	p.NG1162fs	RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1162					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312													9	295	---	---	---	---					
ANXA13	312	broad.mit.edu	37	8	124707761	124707762	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:124707761_124707762insT	ENST00000262219.6	-	7	641_642	c.574_575insA	c.(574-576)cctfs	p.P192fs	ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGACACCAGGATTTTTTTTAGG	0.411													7	802	---	---	---	---					
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aafs	p.KK187fs		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309													7	29	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													17	244	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135277388	135277388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135277388delT	ENST00000334270.2	-	2	860	c.821delA	c.(820-822)agfs	p.K274fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	274	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTCTTAGACTTTTTTTTGTG	0.473													7	575	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													7	296	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													10	483	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													7	622	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													9	59	---	---	---	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:14529252_14529254delCAT	ENST00000530457.1	-	9	1138_1140	c.608_610delATG	c.(607-612)gtg>g	p.DV203del	PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000524606.1_5'UTR			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													8	543	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)cag>ca	p.HQ65del		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCGCGTGACTGGTGGTGGTGGT	0.660													7	346	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													10	588	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				10	317	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)del	p.S52del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557													7	794	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)ccfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532													7	895	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:56558379_56558381delAGG	ENST00000550164.1	-	28	3381_3383	c.3367_3369delCCT	c.(3367-3369)del	p.P1123del	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.			HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).	chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													7	171	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)del	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													8	257	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													23	1671	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													7	626	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													12	369	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46543660	46543661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:46543660_46543661insT	ENST00000242848.4	-	14	3366_3367	c.3018_3019insA	c.(3016-3021)aagtaafs	p.*1007fs	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.*1007fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTTTTACGTTTTTTTTCAA	0.371													9	529	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138110	20138110	+	RNA	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:20138110delT	ENST00000548261.1	+	0	391																											GGGAACTTCCTCCACTCCTTT	0.488													24	850	---	---	---	---					
GPHN	10243	broad.mit.edu	37	14	67389496	67389497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:67389496_67389497insC	ENST00000478722.1	+	7	1691_1692	c.570_571insC	c.(568-573)ccccccfs	p.PP190fs	GPHN_ENST00000543237.1_Frame_Shift_Ins_p.PP203fs|GPHN_ENST00000305960.9_Frame_Shift_Ins_p.PP159fs|GPHN_ENST00000459628.1_Frame_Shift_Ins_p.PP172fs|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Frame_Shift_Ins_p.PP190fs	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	190	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTTCCCCACCTCCCCCTCTTTC	0.470			T	MLL	AL								10	690	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)afs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													11	150	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25481200	25481201	+	RNA	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:25481200_25481201insT	ENST00000453082.2	+	0	1934					NR_003343.1																						TCCACTGGAAGTTTTTTTTGCG	0.510													10	770	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													11	775	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													21	374	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gat>ga	p.ED214del	VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	214					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522													7	673	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													18	1146	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													16	1261	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													11	341	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													7	360	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	393	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)del	p.G3527del	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTGGTACGAgccgccgccgccg	0.690													8	390	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7801857_7801859delAAG	ENST00000380358.4	+	13	2273_2275	c.2272_2274delAAG	c.(2272-2274)del	p.K762del	CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													9	181	---	---	---	---					
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	RNA	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.450													7	192	---	---	---	---					
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtg>g	p.VL622del	TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	622					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596													13	268	---	---	---	---					
KRTAP9-1	0	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													7	108	---	---	---	---					
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:40370236delG	ENST00000293328.3	-	9	1270	c.1102delC	c.(1102-1104)agfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577													10	279	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													7	89	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													9	639	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													8	194	---	---	---	---					
CCDC178	374864	broad.mit.edu	37	18	30913142	30913143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:30913142_30913143insT	ENST00000383096.3	-	10	1056_1057	c.874_875insA	c.(874-876)ggafs	p.G292fs	CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.G292fs					coiled-coil domain containing 178									p.M292fs*3(2)									ATTTACCTCCATTTTTTTTTTA	0.317													9	136	---	---	---	---					
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:6222272_6222274delAGG	ENST00000252674.7	-	6	1131_1133	c.968_970delCCT	c.(967-972)ttc>t	p.SF323del		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	323	Poly-Ser.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.650			T	MLL	AL								8	173	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155625	12155625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:12155625delT	ENST00000602107.1	-	5	731	c.732delA	c.(730-732)aafs	p.K244fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K197fs			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ATTCATAGGGTTTTTTTGCAG	0.398													9	1144	---	---	---	---					
CCDC130	81576	broad.mit.edu	37	19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-	rs148655062	byFrequency	TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)cag>c	p.QE198del	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del			P13994	CC130_HUMAN	coiled-coil domain containing 130	198					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAAGCCATCCAGGAGGAGGAGGA	0.586													10	528	---	---	---	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctg>ct	p.LE966del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	966						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.660													10	265	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													13	57	---	---	---	---					
MIR520H	0	broad.mit.edu	37	19	54245814	54245815	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54245814_54245815insA	ENST00000385126.1	+	0	49_50					NR_030215.1																						TGTTGTCTGAGAAAAAACAAAG	0.416													103	777	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													16	603	---	---	---	---					
TFAP2C	7022	broad.mit.edu	37	20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)cfs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	380	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGGCTCGCCCCAGTCTTGGAGA	0.550													156	377	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)del	p.Q174del	MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	216	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	713	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38121861	38121862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:38121861_38121862insC	ENST00000406386.3	+	7	3553_3554	c.3298_3299insC	c.(3298-3300)cccfs	p.P1100fs	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1100					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.S1100F(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)					TCAGTGTCAGTCCCCCCAACAC	0.663													8	1065	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)ccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488													7	301	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A9TJ-06A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f4934d-4e54-4d7f-bb5f-6b64e71a70f4	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													7	436	---	---	---	---					
