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
PHLDA1	22822	broad.mit.edu	37	12	76425092	76425092	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:76425092C>G	ENST00000266671.5	-	1	2620	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	PHLDA1_ENST00000602540.1_Missense_Mutation_p.E3Q|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	144					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CCGCTACTCTCCAGCATCCTC	0.662000													6	9					0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30433554	30433554	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:30433554C>T	ENST00000542441.2	+	1	397	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	URI1_ENST00000360605.4_Intron|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Silent_p.C5C			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	34					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GGCGCGGCTGCGCGAGGAGCA	0.776000													4	4					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71590290	71590290	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:71590290G>C	ENST00000409544.1	+	4	2017	c.1387G>C	c.(1387-1389)Gat>Cat	p.D463H	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.D463H|ZNF638_ENST00000355812.3_Missense_Mutation_p.D463H|ZNF638_ENST00000264447.4_Missense_Mutation_p.D463H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	463					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TAGGTATCCTGATTGGAATCC	0.269000													13	23					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35749406	35749406	+	Silent	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr20:35749406G>C	ENST00000400441.3	-	16	2009	c.2010C>G	c.(2008-2010)ctC>ctG	p.L670L	MROH8_ENST00000441008.2_Silent_p.L656L|MROH8_ENST00000217333.8_Silent_p.L499L					maestro heat-like repeat family member 8																		AGCATGTTCTGAGGAGGAGAG	0.463000													5	13					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235383646	235383646	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:235383646C>G	ENST00000264183.3	-	15	1875	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	ARID4B_ENST00000349213.3_Missense_Mutation_p.E460Q|ARID4B_ENST00000366603.2_Missense_Mutation_p.E460Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	460	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTTCTTTCAATTTCATCC	0.308000													43	26					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768175	31768175	+	Missense_Mutation	SNP	T	T	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:31768175T>A	ENST00000240587.4	-	2	2851	c.2524A>T	c.(2524-2526)Aat>Tat	p.N842Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	842					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GACAAGGCATTCTCGCGTAGC	0.522000													7	147					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228491578	228491578	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:228491578C>T	ENST00000570156.2	+	52	14015	c.13941C>T	c.(13939-13941)gaC>gaT	p.D4647D	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.D1337D|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3690	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTGGAGGACACTGGAGAGT	0.572000													58	45					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980668	3980668	+	Missense_Mutation	SNP	T	T	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:3980668T>C	ENST00000309311.6	-	9	1278	c.1190A>G	c.(1189-1191)tAt>tGt	p.Y397C		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	397						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGAAATATACATCATAAG	0.522000													18	30					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13168365	13168365	+	Splice_Site	SNP	T	T	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr9:13168365T>G	ENST00000319217.7	-	22	3501	c.3254A>C	c.(3253-3255)aAa>aCa	p.K1085T	MPDZ_ENST00000541718.1_Splice_Site_p.K1085T|MPDZ_ENST00000381015.4_Splice_Site_p.K1085T|MPDZ_ENST00000536827.1_Splice_Site_p.K1085T|MPDZ_ENST00000447879.1_Splice_Site_p.K1085T|MPDZ_ENST00000546205.1_Splice_Site_p.K1085T|MPDZ_ENST00000381022.2_Splice_Site_p.K1085T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1085	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGATACTTACTTTATGTCAGG	0.383000													57	79					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548180	228548180	+	Silent	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:228548180C>G	ENST00000284548.11	+	81	19661	c.19587C>G	c.(19585-19587)ctC>ctG	p.L6529L	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.L3648L	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7550	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCTCGGCCTCTTTAGGCCTG	0.701000													3	11					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50774154	50774154	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:50774154G>C	ENST00000433963.1	+	12	2195	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N	USP8_ENST00000396444.3_Missense_Mutation_p.K565N|USP8_ENST00000425032.3_Missense_Mutation_p.K488N|USP8_ENST00000307179.4_Missense_Mutation_p.K565N			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	565					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGATGCCAAGAAATCTGTAG	0.413000													12	14					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922683	150922683	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:150922683G>C	ENST00000261800.5	-	9	8017	c.8005C>G	c.(8005-8007)Cct>Gct	p.P2669A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2669	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCAGTGAGGAGGGCCTCCA	0.463000													37	50					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537391	95537391	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:95537391G>T	ENST00000295201.4	+	1	204	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.A23S	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	23					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TAACACGGGCGCCTACACGTC	0.667000													9	24					3.86212e-05	3.98281e-05	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40581093	40581093	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:40581093G>A	ENST00000260402.3	-	32	3630	c.3381C>T	c.(3379-3381)taC>taT	p.Y1127Y	PLCB2_ENST00000557821.1_Silent_p.Y1123Y|PLCB2_ENST00000456256.2_Silent_p.Y1112Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1127					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCCTGGCCTCGTACTCTGCCA	0.652000													25	25					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518643	108518643	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr13:108518643G>A	ENST00000375915.2	-	1	440	c.302C>T	c.(301-303)cCc>cTc	p.P101L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	101						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGCCAGGAGGgctcctgctg	0.736000													7	11					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99691001	99691001	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:99691001C>T	ENST00000303887.5	-	14	2517	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Silent_p.V448V	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	624	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTTCTCCACCACATCCACCA	0.532000													24	46					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150741223	150741223	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:150741223G>A	ENST00000358849.4	+	15	2024	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	661	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCAGGCCGCACGGTGCTG	0.642000													3	23					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114138283	114138283	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr13:114138283G>A	ENST00000478244.1	-	2	374	c.92C>T	c.(91-93)aCg>aTg	p.T31M	DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.T31M|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	31	UBA-like.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CTCATTCTGCGTTAAGCAGTA	0.527000													4	148					0	0	1	0	0
TICAM2	353376	broad.mit.edu	37	5	114916672	114916672	+	Silent	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:114916672G>C	ENST00000408996.4	-	4	1175	c.789C>G	c.(787-789)ctC>ctG	p.L263L	TMED7-TICAM2_ENST00000282382.4_Silent_p.L263L|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Silent_p.L94L	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TCTGGACTCTGAGGGCTTCAT	0.428000													77	111					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463768	25463768	+	RNA	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:25463768C>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGGTTGGGTCAGTGATGAGA	0.527000													85	146					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313386	1313386	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr6:1313386C>T	ENST00000296839.2	+	1	712	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	149					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACGAGTACCTCATGGGCAAGT	0.657000													21	27					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459994	1459994	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:1459994C>T	ENST00000345913.4	+	7	850	c.759C>T	c.(757-759)ttC>ttT	p.F253F	TPO_ENST00000337415.3_Silent_p.F253F|TPO_ENST00000382198.1_Silent_p.F253F|TPO_ENST00000329066.4_Silent_p.F253F|TPO_ENST00000382201.3_Silent_p.F253F|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.F253F|TPO_ENST00000346956.3_Silent_p.F253F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	253					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGCTGCCTTCGGGGGAGGGG	0.473000													24	30					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124746144	124746144	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:124746144G>A	ENST00000311127.4	-	3	885	c.818C>T	c.(817-819)aCg>aTg	p.T273M		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	273						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CCTAGAAGGCGTGGTCAGCTC	0.537000													4	14					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523720	23523720	+	Silent	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr22:23523720C>G	ENST00000305877.8	+	1	1324	c.573C>G	c.(571-573)gtC>gtG	p.V191V	BCR_ENST00000359540.3_Silent_p.V191V|BCR_ENST00000398512.5_Silent_p.V191V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	191	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGGTGAAGGTCAACGACAAAG	0.667000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								27	29					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													9	43					0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43991212	43991212	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:43991212G>A	ENST00000413453.2	+	9	1703	c.1179G>A	c.(1177-1179)ttG>ttA	p.L393L	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Silent_p.L393L			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	393	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TAAACTATTTGATTGATTGTG	0.483000													61	70					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57908749	57908749	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:57908749C>T	ENST00000262027.5	+	17	2246	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	MARS_ENST00000315473.5_Silent_p.A470A	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	704					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCCGGGATGCCTTGCGCAGTA	0.512000													26	39					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268310	65268310	+	RNA	SNP	A	A	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:65268310A>G	ENST00000534336.1	+	0	3078					NR_002819.2																						ATTTTCTAATATAATGGGGGA	0.413000													16	15					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75139939	75139939	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:75139939C>G	ENST00000372921.5	-	10	995	c.939G>C	c.(937-939)caG>caC	p.Q313H	ANXA7_ENST00000535178.1_Missense_Mutation_p.Q183H	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GGTTTATACTCTGGTTCTCAT	0.393000													54	93					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76130591	76130591	+	Silent	SNP	T	T	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr17:76130591T>G	ENST00000318430.5	+	8	1307	c.933T>G	c.(931-933)gtT>gtG	p.V311V	TMC8_ENST00000589691.1_Silent_p.V88V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	311						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCCTGGTGGTTGGGGCCATCA	0.617000													28	24					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424750	76424750	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:76424750C>T	ENST00000266671.5	-	1	2962	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PHLDA1_ENST00000602540.1_Missense_Mutation_p.E117K|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	258	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TCCTTGCCCTCTGCCATCACC	0.577000													11	18					0	0	1	0	0
GGPS1	9453	broad.mit.edu	37	1	235505737	235505737	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:235505737C>A	ENST00000282841.5	+	4	785	c.553C>A	c.(553-555)Caa>Aaa	p.Q185K	GGPS1_ENST00000358966.2_Missense_Mutation_p.Q185K|GGPS1_ENST00000488594.1_Missense_Mutation_p.Q185K|GGPS1_ENST00000476121.1_Missense_Mutation_p.Q185K|GGPS1_ENST00000391855.2_Missense_Mutation_p.Q131K			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	185					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			GCTCTTTTTCCAAATTAGGGA	0.358000													4	152					0.150653	0.150653	1	1	0
WNT7A	7476	broad.mit.edu	37	3	13896125	13896125	+	Silent	SNP	G	G	A	rs144400215		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:13896125G>A	ENST00000285018.4	-	3	778	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	158					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AGCCGATGCCGTAGCGGATGT	0.602000													4	118					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73044510	73044510	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:73044510C>T	ENST00000335350.6	+	3	754	c.338C>T	c.(337-339)tCg>tTg	p.S113L	UNC5B_ENST00000373192.4_Missense_Mutation_p.S113L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	113	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATCGAGGTGTCGCGGCAGCAG	0.667000													33	38					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72107863	72107863	+	Silent	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr16:72107863C>A	ENST00000540303.2	+	2	110	c.78C>A	c.(76-78)gtC>gtA	p.V26V	HPR_ENST00000561690.1_Silent_p.V26V|HPR_ENST00000228226.8_Silent_p.V63V|HPR_ENST00000356967.5_Silent_p.V26V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	26					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCAATGATGTCACGGATATTT	0.517000													37	85					1.42033e-22	1.68601e-22	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110984974	110984974	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr8:110984974C>T	ENST00000524391.1	-	3	1536	c.504G>A	c.(502-504)aaG>aaA	p.K168K	KCNV1_ENST00000297404.1_Silent_p.K168K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	168						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTGTGTCCTTCTTGAAGTCTA	0.398000													34	57					0	0	1	0	0
WEE1	7465	broad.mit.edu	37	11	9597625	9597625	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:9597625G>C	ENST00000299613.6	+	2	880	c.125G>C	c.(124-126)aGa>aCa	p.R42T	WEE1_ENST00000450114.2_Missense_Mutation_p.R256T	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	256	Poly-Glu.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CGTAGAAAGAGAACGTATTGG	0.358000													33	48					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401565	10401565	+	Splice_Site	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:10401565C>A	ENST00000397077.1	-	12	2342		c.e12+1		ATP2B2_ENST00000343816.4_Splice_Site|ATP2B2_ENST00000352432.4_Splice_Site|ATP2B2_ENST00000383800.4_Splice_Site|ATP2B2_ENST00000360273.2_Splice_Site			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGCGCTTACTTCTTGAGCA	0.622000													23	44					3.6726e-16	4.17917e-16	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													6	264					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103506721	103506721	+	Missense_Mutation	SNP	A	A	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr13:103506721A>G	ENST00000355739.4	+	4	1887	c.464A>G	c.(463-465)cAc>cGc	p.H155R	BIVM-ERCC5_ENST00000602836.1_Silent_p.T580T|ERCC5_ENST00000535557.1_Missense_Mutation_p.H155R	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGAAAAACACAGGTAAATG	0.348000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	36					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123806102	123806102	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:123806102G>C	ENST00000420886.2	-	16	2302	c.2303C>G	c.(2302-2304)tCt>tGt	p.S768C	SBNO1_ENST00000267176.4_Missense_Mutation_p.S767C|SBNO1_ENST00000602398.1_Missense_Mutation_p.S768C|SBNO1_ENST00000602750.1_Missense_Mutation_p.S767C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	768							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCCTCATTAGACTCATCTAA	0.318000													31	63					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	A	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chrX:125686243A>G	ENST00000371126.1	-	1	591	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117								p.C117R(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCGTGTTACACTTGGTGCCG	0.642000													24	3					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690247	195690247	+	RNA	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:195690247C>T	ENST00000427841.1	-	0	2248					NR_003264.2																						GCACAGTCAGCCTCATTCAAA	0.413000													11	18					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								43	50					0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	211961046	211961046	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:211961046C>G	ENST00000366997.4	-	4	607	c.381G>C	c.(379-381)ttG>ttC	p.L127F	LPGAT1_ENST00000366996.1_Missense_Mutation_p.L127F	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	127					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TATGATCCATCAACCACATCA	0.343000													62	58					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94194190	94194190	+	Missense_Mutation	SNP	T	T	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:94194190T>C	ENST00000323929.3	-	12	1460	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	MRE11A_ENST00000407439.3_Missense_Mutation_p.N416S|MRE11A_ENST00000323977.3_Missense_Mutation_p.N413S|MRE11A_ENST00000393241.4_Missense_Mutation_p.N413S	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	413					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTTCCCAAAGTTGATCTCTTC	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				9	16					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6611850	6611850	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:6611850G>C	ENST00000264670.6	-	10	1394	c.1083C>G	c.(1081-1083)atC>atG	p.I361M	NSUN2_ENST00000539938.1_Missense_Mutation_p.I125M|NSUN2_ENST00000506139.1_Missense_Mutation_p.I326M	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	361						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCACTGTGTGATTCCAGGCA	0.443000													6	20					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636539	44636539	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:44636539G>A	ENST00000262894.6	+	5	2052	c.1772G>A	c.(1771-1773)gGt>gAt	p.G591D	ZNF225_ENST00000590612.1_Missense_Mutation_p.G591D|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGACTCCATGGTGATGAAAAG	0.448000													18	29					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			52	13					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92479790	92479790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:92479790C>T	ENST00000370389.2	+	19	3508	c.2584C>T	c.(2584-2586)Caa>Taa	p.Q862*	BRDT_ENST00000402388.1_Nonsense_Mutation_p.Q935*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.Q889*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.Q935*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.Q935*	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TATGACCCTTCAAAGTGACAT	0.259000													36	60					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140129	178140129	+	Silent	SNP	G	G	A	rs149049991		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:178140129G>A	ENST00000335815.2	-	5	947	c.750C>T	c.(748-750)gcC>gcT	p.A250A		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	250					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTTGGCTAAAGGCTTTTGAAC	0.358000													25	45					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56524877	56524877	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:56524877C>G	ENST00000394048.5	+	4	885	c.621C>G	c.(619-621)atC>atG	p.I207M	ESYT1_ENST00000541590.1_Missense_Mutation_p.I207M|ESYT1_ENST00000267113.4_Missense_Mutation_p.I207M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	207						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGCAGATCCTGCTGGACT	0.517000													17	29					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425038	49425038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:49425038G>A	ENST00000301067.7	-	39	13449	c.13450C>T	c.(13450-13452)Cga>Tga	p.R4484*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCTCAGCTCGCAGCCCCTCG	0.597000													19	61					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739282	138739282	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:138739282G>T	ENST00000329447.5	-	1	486	c.222C>A	c.(220-222)gaC>gaA	p.D74E	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	74								p.D74D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCGACGTCGTCCAGGGGCA	0.697000													10	11					7.48243e-07	7.76478e-07	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17305834	17305834	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:17305834G>A	ENST00000595618.1	+	22	3750	c.3598G>A	c.(3598-3600)Gat>Aat	p.D1200N	MYO9B_ENST00000397274.2_Missense_Mutation_p.D1200N|MYO9B_ENST00000594824.1_Missense_Mutation_p.D1200N	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1200	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGCAGAGAAGATGAAACCCT	0.547000													9	20					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29684009	29684009	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr17:29684009C>T	ENST00000358273.4	+	53	8153	c.7770C>T	c.(7768-7770)caC>caT	p.H2590H	NF1_ENST00000356175.3_Silent_p.H2569H|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Silent_p.H383H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2590					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACAACAGCACCCACATTTAC	0.403000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			44	134					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727620	39727620	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr17:39727620C>A	ENST00000246662.4	-	1	690	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	209	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TTGAGATCATCAATAGTGTTA	0.418000													37	63					8.73648e-17	1.00106e-16	1	1	0
KRT76	51350	broad.mit.edu	37	12	53170964	53170964	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:53170964C>T	ENST00000332411.2	-	1	165	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	38	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCACCAGCTCCCCCAGAGCGG	0.617000													29	35					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509680	117509680	+	Missense_Mutation	SNP	T	T	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:117509680T>G	ENST00000393203.2	+	6	1934	c.1787T>G	c.(1786-1788)cTc>cGc	p.L596R		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	596	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTCGGCGACCTCTCCAGTCCC	0.483000													28	36					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1818734	1818734	+	Missense_Mutation	SNP	A	A	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:1818734A>C	ENST00000170168.4	-	9	2967	c.2873T>G	c.(2872-2874)tTc>tGc	p.F958C		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	958						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGCTGTGAAGATGATTGC	0.677000													10	17					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	258139	258139	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr16:258139C>T	ENST00000337351.4	-	4	427	c.304G>A	c.(304-306)Gag>Aag	p.E102K	LUC7L_ENST00000397780.1_Missense_Mutation_p.E49K|LUC7L_ENST00000397783.1_Missense_Mutation_p.E102K|LUC7L_ENST00000293872.8_Missense_Mutation_p.E102K	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	102							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TTGGCGAGCTCAGTTCTCCGA	0.478000													24	41					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256336	52256336	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:52256336C>A	ENST00000597542.1	-	9	3025	c.2068G>T	c.(2068-2070)Gcc>Tcc	p.A690S	TLR9_ENST00000360658.2_Missense_Mutation_p.A666S|TLR9_ENST00000494383.1_Missense_Mutation_p.G819V			Q9NR96	TLR9_HUMAN	toll-like receptor 9	666					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTAAAGAAGGCCAGGTAATTG	0.607000													27	63					1.08312e-15	1.22407e-15	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79339117	79339117	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:79339117G>A	ENST00000419573.3	-	5	1123	c.849C>T	c.(847-849)caC>caT	p.H283H	RASGRF1_ENST00000558480.2_Silent_p.H283H|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	283	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACGTCGTCGTGTGTGATGG	0.577000													45	59					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556217	45556217	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr18:45556217C>A	ENST00000588982.1	-	4	1775	c.1274G>T	c.(1273-1275)tGc>tTc	p.C425F	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.C425F|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.C425F|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.C425F|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.C425F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	425						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTGGCGTTGCAGTGGATGCA	0.597000													10	23					1.04858e-14	1.16902e-14	1	1	0
IGHV1-45	28466	broad.mit.edu	37	14	106963095	106963095	+	RNA	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr14:106963095C>A	ENST00000390621.2	-	0	244																											CACTCAAGCGCTTGTCCGGGG	0.542000													44	50					3.7052e-28	4.43013e-28	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70074116	70074116	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:70074116C>G	ENST00000446444.1	-	3	963	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	319					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTGGCCCTTTCTGCTGTCATG	0.428000													96	136					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42643539	42643539	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:42643539G>C	ENST00000318010.8	+	23	2784	c.2544G>C	c.(2542-2544)caG>caC	p.Q848H	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	848			Q -> R (in dbSNP:rs7180279).		carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TTGCTGACCAGAGGGGTCATT	0.488000													35	39					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	65					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12577551	12577551	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:12577551G>C	ENST00000397732.3	-	2	288	c.117C>G	c.(115-117)aaC>aaG	p.N39K	ZNF709_ENST00000428311.1_Missense_Mutation_p.N39K|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TAGAGGCCAAGTTAACAAAGG	0.428000													23	58					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3257008	3257008	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr8:3257008C>A	ENST00000602557.1	-	17	2868	c.2313G>T	c.(2311-2313)ttG>ttT	p.L771F	CSMD1_ENST00000539096.1_Missense_Mutation_p.L770F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L771F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L771F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L770F|CSMD1_ENST00000520002.1_Missense_Mutation_p.L771F|CSMD1_ENST00000537824.1_Missense_Mutation_p.L770F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	771	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCCAGGAGGCAAAATGACTC	0.403000													11	19					0.00829132	0.00839305	1	1	0
TET2	54790	broad.mit.edu	37	4	106156348	106156348	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:106156348C>A	ENST00000540549.1	+	3	2109	c.1249C>A	c.(1249-1251)Cag>Aag	p.Q417K	TET2_ENST00000305737.2_Missense_Mutation_p.Q417K|TET2_ENST00000513237.1_Missense_Mutation_p.Q438K|TET2_ENST00000545826.1_Missense_Mutation_p.Q417K|TET2_ENST00000413648.2_Missense_Mutation_p.Q417K|TET2_ENST00000380013.4_Missense_Mutation_p.Q417K|TET2_ENST00000394764.1_Missense_Mutation_p.Q417K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	417	Pro-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGGTTCCTCAGCTTCCTTC	0.463000			"""Mis N, F"""		MDS								37	52					4.62619e-21	5.41363e-21	1	1	0
TSC1	7248	broad.mit.edu	37	9	135772845	135772845	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr9:135772845C>T	ENST00000298552.3	-	21	2999	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q	TSC1_ENST00000440111.2_Silent_p.Q926Q|TSC1_ENST00000545250.1_Silent_p.Q875Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	926					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATATTTCTTCTGTTCCAAAA	0.433000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				72	92					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118453966	118453966	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:118453966G>C	ENST00000359415.4	+	4	628	c.463G>C	c.(463-465)Gat>Cat	p.D155H	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.D114H|ARCN1_ENST00000392859.3_Missense_Mutation_p.D26H			P48444	COPD_HUMAN	archain 1	114					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTTTGCTTTTGATGAAATTGT	0.408000													30	67					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104152952	104152952	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:104152952C>T	ENST00000388887.2	+	65	7353	c.7149C>T	c.(7147-7149)gtC>gtT	p.V2383V	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2383	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCGCCAATGTCAGCATGTTTT	0.507000													28	61					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38604747	38604747	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr21:38604747C>G	ENST00000288304.5	-	5	1104	c.312G>C	c.(310-312)caG>caC	p.Q104H	DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Missense_Mutation_p.Q21H|DSCR3_ENST00000398998.1_Missense_Mutation_p.Q98H|DSCR3_ENST00000539844.1_Missense_Mutation_p.Q69H|DSCR3_ENST00000476950.1_Missense_Mutation_p.Q119H|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000309117.6_Missense_Mutation_p.Q146H			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	146					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACTTCCCCTTCTGAGGCTAAA	0.488000													11	18					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140210	178140210	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:178140210G>T	ENST00000335815.2	-	5	866	c.669C>A	c.(667-669)ttC>ttA	p.F223L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	223					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AAGTGTTAATGAAGGTTTTTT	0.333000													30	61					7.26314e-15	8.15251e-15	1	1	0
USP34	9736	broad.mit.edu	37	2	61508328	61508328	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:61508328G>A	ENST00000398571.2	-	38	5124	c.5048C>T	c.(5047-5049)tCa>tTa	p.S1683L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1683					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCCAGCCCTGACAGGGATAA	0.398000													18	20					0	0	1	0	0
INIP	58493	broad.mit.edu	37	9	115456466	115456466	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr9:115456466C>G	ENST00000374242.4	-	3	378	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_5'UTR|INIP_ENST00000374234.1_5'UTR|INIP_ENST00000374236.1_5'UTR	NM_021218.1	NP_067041.1			INTS3 and NABP interacting protein																		TTTCTTTTCTCTTTGTCCAGT	0.343000													32	49					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814835	106814835	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr8:106814835G>A	ENST00000407775.2	+	8	2775	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R710Q|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R573Q|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R710Q|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	842					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGTCTGAGCGGACGACCACG	0.463000													6	4					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42168767	42168767	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:42168767C>A	ENST00000320955.6	-	20	4157	c.3930G>T	c.(3928-3930)ttG>ttT	p.L1310F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1310					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGAAGCCAGCAACTGCCTCC	0.637000													3	8					0.004672	0.00475852	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113347652	113347652	+	Silent	SNP	G	G	A	rs113449703		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr8:113347652G>A	ENST00000297405.5	-	45	7315	c.7071C>T	c.(7069-7071)acC>acT	p.T2357T	CSMD3_ENST00000352409.3_Silent_p.T2287T|CSMD3_ENST00000455883.2_Silent_p.T2253T|CSMD3_ENST00000343508.3_Silent_p.T2317T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2357	CUB 13.					integral to membrane|plasma membrane		p.T2317T(1)|p.T2357T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCCAAAGCGGTATTGCCAC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	29					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324768	9324768	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:9324768G>A	ENST00000308682.2	-	1	774	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATAGAACAAGGAGACCACACA	0.517000													25	34					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656950	54656950	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:54656950C>T	ENST00000358389.3	+	17	2381	c.1527C>T	c.(1525-1527)agC>agT	p.S509S	CNOT3_ENST00000221232.5_Intron|CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000406403.1_Intron			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	316	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGTTGACAGCGAGGCTGGTC	0.672000													8	25					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280702	105280702	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chrX:105280702G>A	ENST00000327674.4	-	1	683	c.348C>T	c.(346-348)atC>atT	p.I116I	SERPINA7_ENST00000372563.1_Silent_p.I116I			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	116			I -> N (in TBG deficiency; Gary; severe TBG deficiency; dbSNP:rs28933689).		regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCAGTGAACAGATCAGATGCT	0.478000													52	21					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140036	178140036	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:178140036G>A	ENST00000335815.2	-	5	1040	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	281					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGGATGTACTGAGAGTAAAGG	0.388000													61	92					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093074	211093074	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:211093074G>A	ENST00000367007.4	-	7	1458	c.1289C>T	c.(1288-1290)aCa>aTa	p.T430I	KCNH1_ENST00000271751.4_Missense_Mutation_p.T457I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	457					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCTGGTCATTGTGAAATACAA	0.493000													29	95					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6263488	6263488	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:6263488G>A	ENST00000379775.4	+	9	1306	c.976G>A	c.(976-978)Gcg>Acg	p.A326T	PFKFB3_ENST00000317350.4_Missense_Mutation_p.A326T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A326T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A326T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A326T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A306T|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A340T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	326	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|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGAGATCGACGCGGTGAGTCC	0.672000													6	11					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17305626	17305626	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:17305626G>C	ENST00000595618.1	+	22	3542	c.3390G>C	c.(3388-3390)caG>caC	p.Q1130H	MYO9B_ENST00000397274.2_Missense_Mutation_p.Q1130H|MYO9B_ENST00000594824.1_Missense_Mutation_p.Q1130H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1130	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCCCACCCCAGAAAACCGTGG	0.612000													7	23					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158535905	158535905	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr6:158535905G>A	ENST00000367104.3	-	15	1731	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	SERAC1_ENST00000367102.2_3'UTR|SERAC1_ENST00000367101.1_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	534					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GATCCATGATGAGGGACACTA	0.393000													111	165					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090453	22090453	+	RNA	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr14:22090453G>C	ENST00000542354.1	+	0	125																											GCAGGACAAAGCCTTGAGCAG	0.473000													18	28					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17305752	17305752	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:17305752G>C	ENST00000595618.1	+	22	3668	c.3516G>C	c.(3514-3516)gaG>gaC	p.E1172D	MYO9B_ENST00000397274.2_Missense_Mutation_p.E1172D|MYO9B_ENST00000594824.1_Missense_Mutation_p.E1172D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1172	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCAAGGAGGAGAGTGCCCTCA	0.557000													11	33					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147475418	147475418	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:147475418C>G	ENST00000359874.3	+	10	905	c.832C>G	c.(832-834)Caa>Gaa	p.Q278E	SPINK5_ENST00000256084.7_Missense_Mutation_p.Q278E|SPINK5_ENST00000398454.1_Missense_Mutation_p.Q278E|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	278	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAACAGATCAAAATTTGGG	0.348000													43	48					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1415425	1415425	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:1415425G>T	ENST00000446702.2	+	15	2551	c.1924G>T	c.(1924-1926)Ggt>Tgt	p.G642C	CNTN6_ENST00000539053.1_Missense_Mutation_p.G570C|CNTN6_ENST00000350110.2_Missense_Mutation_p.G642C			Q9UQ52	CNTN6_HUMAN	contactin 6	642	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTTTCTGTGGGTTGGCAGGC	0.353000													37	40					7.91308e-09	8.31629e-09	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219874109	219874109	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:219874109G>A	ENST00000341552.5	-	28	4609	c.4526C>T	c.(4525-4527)tCt>tTt	p.S1509F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S1509F|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.S1509F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1509						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCATGCACAGAGGCCCTCAA	0.577000													36	14					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526118	52526118	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:52526118G>A	ENST00000345716.4	+	21	4269	c.4135G>A	c.(4135-4137)Gag>Aag	p.E1379K	NISCH_ENST00000479054.1_Missense_Mutation_p.E1379K	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1379					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACCAGCTCCGAGATCTTCCT	0.657000													17	29					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100518241	100518241	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:100518241G>A	ENST00000457717.1	+	9	1183	c.927G>A	c.(925-927)cgG>cgA	p.R309R	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.R309R|MTTP_ENST00000511045.1_Silent_p.R336R	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	309	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGCTCTGGCGGTCCACCAGGA	0.498000													4	128					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	79010959	79010959	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:79010959G>A	ENST00000286627.5	-	3	1548	c.596C>T	c.(595-597)tCa>tTa	p.S199L	KCNMA1_ENST00000354353.5_Missense_Mutation_p.S199L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S199L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S199L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S199L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S199L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S199L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S199L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	199					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCACTTTGATGAATCTATGAA	0.373000											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595719	179595719	+	Silent	SNP	T	T	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:179595719T>G	ENST00000589042.1	-	60	17897	c.17673A>C	c.(17671-17673)ggA>ggC	p.G5891G	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5574G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G4647G|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5574	Ig-like 40.						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)			AAGTATATTCTCCACTATCTT	0.393000													96	32					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29221101	29221101	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr17:29221101G>A	ENST00000321990.4	+	21	5608	c.5230G>A	c.(5230-5232)Gat>Aat	p.D1744N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1744					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCAACCAACGATCTTACTTT	0.333000													3	47					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581957	118581957	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:118581957C>G	ENST00000336338.5	-	23	3342	c.3277G>C	c.(3277-3279)Gaa>Caa	p.E1093Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1093						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTCCTCTTCTAAATAATAA	0.373000													20	22					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057033	53057033	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:53057033G>T	ENST00000359798.4	+	5	1044	c.864G>T	c.(862-864)aaG>aaT	p.K288N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTTACAAGTGTAAAGAGT	0.398000													48	97					5.2432e-18	6.04985e-18	1	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75552335	75552335	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:75552335G>A	ENST00000604729.1	+	10	2335	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.E680K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E680K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E680K|ZSWIM8_ENST00000431225.1_3'UTR					zinc finger, SWIM-type containing 8																		GGAAGGGCCTGAGCCTCCCAC	0.597000													11	18					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178837	112178837	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:112178837G>C	ENST00000457016.1	+	16	7926	c.7546G>C	c.(7546-7548)Gag>Cag	p.E2516Q	APC_ENST00000257430.4_Missense_Mutation_p.E2516Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E2516Q			P25054	APC_HUMAN	adenomatous polyposis coli	2516	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCCACTATAGAGTATAATGA	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			44	73					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160155928	160155928	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:160155928G>T	ENST00000309784.4	-	3	1229	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	TRIM59_ENST00000543469.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	348						integral to membrane|intracellular	zinc ion binding			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)			TGTGTTGGTTGAAAAAGAGTA	0.313000													16	39					6.72482e-11	7.25226e-11	1	1	0
ZFP69	339559	broad.mit.edu	37	1	40960733	40960733	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:40960733G>C	ENST00000372706.1	+	6	1589	c.583G>C	c.(583-585)Gat>Cat	p.D195H	ZFP69_ENST00000372705.3_Missense_Mutation_p.D195H|RP11-656D10.3_ENST00000450713.1_RNA					ZFP69 zinc finger protein																		CTCCACATATGATGATGTCTT	0.393000													32	52					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224606026	224606026	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:224606026G>A	ENST00000414423.2	-	6	1148	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.H172Y	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	319						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTGGTATTGTGATATAGGCAC	0.428000													32	73					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139754465	139754465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:139754465G>A	ENST00000263549.3	-	4	1732	c.859C>T	c.(859-861)Caa>Taa	p.Q287*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	287						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AACTTACCTTGAAAGCTACAA	0.478000													28	58					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8375966	8375966	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr9:8375966G>T	ENST00000381196.4	-	36	5174	c.4631C>A	c.(4630-4632)cCc>cAc	p.P1544H	PTPRD_ENST00000397611.3_Missense_Mutation_p.P1134H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1544H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1137H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1137H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1544H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1137H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1531H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1522H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1138H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1134H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1544	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACCAGCATCGGGAGGGTTACA	0.473000										TSP Lung(15;0.13)			16	22					6.31663e-08	6.59648e-08	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181491	140181491	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:140181491G>A	ENST00000522353.2	+	1	709	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D237N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.D237N(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTAAACGACAACGCCCC	0.443000													29	23					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111414870	111414870	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:111414870G>A	ENST00000436913.2	+	2	432	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	LAYN_ENST00000533265.1_Missense_Mutation_p.R103H|LAYN_ENST00000375615.3_Missense_Mutation_p.R111H|LAYN_ENST00000525126.1_Missense_Mutation_p.R111H|LAYN_ENST00000375614.2_Missense_Mutation_p.R103H|LAYN_ENST00000528924.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	0						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CTCAGGAGGCGTGAGGAGAAA	0.468000													10	16					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	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_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|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													3	44					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018622	5018622	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:5018622C>G	ENST00000307746.4	-	3	294	c.268G>C	c.(268-270)Gat>Cat	p.D90H		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	90					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTCAAGGAATCTACCTGGGCC	0.522000													43	59					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852648	20852648	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr14:20852648C>A	ENST00000262715.5	-	23	3281	c.3241G>T	c.(3241-3243)Ggt>Tgt	p.G1081C	TEP1_ENST00000556935.1_Missense_Mutation_p.G973C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTGCCACACCCCCCCACTCA	0.587000													42	77					9.84934e-19	1.14447e-18	1	1	0
GPR171	29909	broad.mit.edu	37	3	150917051	150917051	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:150917051C>A	ENST00000309180.5	-	3	353	c.123G>T	c.(121-123)caG>caT	p.Q41H	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	41						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGTATTCTTCTGTATAAAAG	0.363000													32	46					6.50621e-10	6.97094e-10	1	1	0
ZNF808	388558	broad.mit.edu	37	19	53057032	53057032	+	Missense_Mutation	SNP	A	A	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:53057032A>G	ENST00000359798.4	+	5	1043	c.863A>G	c.(862-864)aAg>aGg	p.K288R		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AAACCTTACAAGTGTAAAGAG	0.403000													49	97					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493804	27493804	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr17:27493804G>A	ENST00000527372.1	-	2	335	c.155C>T	c.(154-156)tCc>tTc	p.S52F	MYO18A_ENST00000533112.1_Missense_Mutation_p.S52F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S52F|MYO18A_ENST00000531253.1_Missense_Mutation_p.S52F	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	52					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCACGCTTGGAGGAGCGGTT	0.567000													7	11					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563777	55563777	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:55563777C>A	ENST00000335605.1	+	1	746	c.746C>A	c.(745-747)tCt>tAt	p.S249Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	249			S -> A (in dbSNP:rs297054).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CACCTGACTTCTATCACCATC	0.453000													12	27					5.35356e-11	5.81143e-11	1	1	0
THBS3	7059	broad.mit.edu	37	1	155175090	155175090	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:155175090G>A	ENST00000368378.3	-	3	324	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	102	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCATCCTCCCGCTGGTATCGC	0.622000													29	22					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971671	96971671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr10:96971671G>A	ENST00000341686.3	+	6	917	c.792G>A	c.(790-792)tgG>tgA	p.W264*	C10orf129_ENST00000394005.3_Nonsense_Mutation_p.W264*|C10orf129_ENST00000430183.1_Nonsense_Mutation_p.W109*	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	264					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ATGTCTTGTGGAGTCTGGGTG	0.473000													24	38					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1818733	1818733	+	Silent	SNP	G	G	A	rs2304614	byFrequency	TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:1818733G>A	ENST00000170168.4	-	9	2968	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	958						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCAGCTGTGAAGATGATTG	0.672000													10	17					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103324050	103324050	+	Silent	SNP	T	T	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr8:103324050T>C	ENST00000520539.1	-	19	2937	c.2331A>G	c.(2329-2331)aaA>aaG	p.K777K	UBR5_ENST00000521922.1_Silent_p.K771K|UBR5_ENST00000220959.4_Silent_p.K777K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	777					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTGTTCTGCTTTTCCTGTAG	0.398000													3	60					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18847400	18847400	+	Silent	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr16:18847400G>A	ENST00000446231.2	-	48	8324	c.7912C>T	c.(7912-7914)Ctg>Ttg	p.L2638L	SMG1_ENST00000389467.3_Silent_p.L2638L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2638					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTTGCTCCAGACAGCCACGG	0.567000													6	6					0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376089	29376089	+	RNA	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr16:29376089C>T	ENST00000398878.3	+	0	1517				SNX29P2_ENST00000507381.1_RNA														p.S125F(1)									GAGCAGAACTCTGGGGACATG	0.453000													3	55					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74319665	74319665	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr9:74319665C>T	ENST00000377044.4	-	18	3579	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	TMEM2_ENST00000396272.3_Missense_Mutation_p.E7K|TMEM2_ENST00000377066.5_Missense_Mutation_p.E951K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1014						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GACGGATACTCATCTCGTGTA	0.423000													25	39					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042437	242042437	+	Missense_Mutation	SNP	G	G	T	rs4149978	byFrequency	TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:242042437G>T	ENST00000366548.3	+	13	2494	c.1901G>T	c.(1900-1902)cGa>cTa	p.R634L	EXO1_ENST00000348581.5_Missense_Mutation_p.R634L|EXO1_ENST00000518483.1_Missense_Mutation_p.R634L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	634	Interaction with MSH2.		R -> Q (in dbSNP:rs4149978).		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAGCAGTTCCGAAGAAAGAGC	0.478000								Editing and processing nucleases					26	71					4.47668e-21	5.27609e-21	1	1	0
GABPA	2551	broad.mit.edu	37	21	27141413	27141413	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr21:27141413C>T	ENST00000354828.3	+	10	1762	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	GABPA_ENST00000400075.3_Missense_Mutation_p.A412V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	412					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TACAGTGCAGCGGAGTTGAAC	0.433000													48	78					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288456	151288456	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:151288456G>A	ENST00000368875.2	-	3	1118	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.R180C|PI4KB_ENST00000368874.4_Missense_Mutation_p.R168C|PI4KB_ENST00000368872.1_Missense_Mutation_p.R168C|PI4KB_ENST00000368873.1_Missense_Mutation_p.R168C	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	168					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTCGTTGCGAAAGCAGAAG	0.488000													88	75					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179247944	179247944	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr5:179247944C>T	ENST00000389805.4	+	1	186	c.8C>T	c.(7-9)tCg>tTg	p.S3L	SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	3	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTATGGCGTCGCTCACCGTG	0.711000													5	15					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108235874	108235874	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:108235874G>C	ENST00000278616.4	+	62	9301	c.8916G>C	c.(8914-8916)caG>caC	p.Q2972H	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.Q2972H|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2972					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTACAGCAGAGGCCGGAAG	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			31	46					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102484885	102484885	+	Missense_Mutation	SNP	A	A	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr14:102484885A>T	ENST00000360184.4	+	41	8439	c.8275A>T	c.(8275-8277)Att>Ttt	p.I2759F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2759	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCTGAGGCTCATTCCATCCCT	0.577000													20	30					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35749414	35749414	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr20:35749414G>C	ENST00000400441.3	-	16	2001	c.2002C>G	c.(2002-2004)Ctc>Gtc	p.L668V	MROH8_ENST00000441008.2_Missense_Mutation_p.L654V|MROH8_ENST00000217333.8_Missense_Mutation_p.L497V					maestro heat-like repeat family member 8																		CTGAGGAGGAGAGTCTTTGTA	0.463000													5	11					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48952828	48952828	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:48952828G>C	ENST00000294954.7	-	4	391	c.370C>G	c.(370-372)Cga>Gga	p.R124G	LHCGR_ENST00000344775.3_Missense_Mutation_p.R124G|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R124G|LHCGR_ENST00000403273.1_Missense_Mutation_p.R124G|LHCGR_ENST00000401907.1_Missense_Mutation_p.R124G	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	124				R -> G (in Ref. 1; AAA59515 and 4; CAA59234).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TATTTTAATCGGGGAAGATTT	0.363000													83	106					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30092450	30092450	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:30092450C>T	ENST00000449726.1	+	7	1114	c.764C>T	c.(763-765)tCa>tTa	p.S255L	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S255L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S255L|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S255L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	255					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TGCAGCATATCAAGTGAGGAA	0.279000													15	28					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7065160	7065160	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr11:7065160G>T	ENST00000299481.4	+	4	2249	c.1903G>T	c.(1903-1905)Gta>Tta	p.V635L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	635					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGGCTGTCTGTAACTGTGGT	0.428000													33	52					2.04263e-09	2.16048e-09	1	1	0
MAP7	9053	broad.mit.edu	37	6	136871504	136871504	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr6:136871504C>G	ENST00000354570.3	-	1	453	c.43G>C	c.(43-45)Gac>Cac	p.D15H		NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	15					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ACTGCGCCGTCGCCGCCCCTG	0.741000													2	1					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60760350	60760350	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr15:60760350C>G	ENST00000261520.4	-	4	552	c.318G>C	c.(316-318)agG>agC	p.R106S	NARG2_ENST00000561114.1_Missense_Mutation_p.R106S|NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000439632.1_5'UTR	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	106						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCACATAACTCCTCTGCTCTC	0.373000													35	41					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109663689	109663689	+	Missense_Mutation	SNP	C	C	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:109663689C>G	ENST00000296486.3	-	13	1605	c.1451G>C	c.(1450-1452)gGa>gCa	p.G484A	ETNPPL_ENST00000510706.1_Missense_Mutation_p.G444A|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G426A|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G478A	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CGTGCACATTCCATTTCTCTT	0.448000													40	75					0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844866	15844866	+	Missense_Mutation	SNP	C	C	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr1:15844866C>A	ENST00000546424.1	-	2	401	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	CASP9_ENST00000333868.5_Missense_Mutation_p.D53Y|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.D53Y			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	53	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGGCCTGATCCCGCCGAGAT	0.527000													24	42					7.92952e-12	8.66471e-12	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123805390	123805390	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:123805390G>A	ENST00000420886.2	-	17	2346	c.2347C>T	c.(2347-2349)Cac>Tac	p.H783Y	SBNO1_ENST00000267176.4_Missense_Mutation_p.H782Y|SBNO1_ENST00000602398.1_Missense_Mutation_p.H783Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.H782Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	783							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTTTCTTGTGGTCTTTTCTA	0.323000													13	48					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98660336	98660336	+	Silent	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr13:98660336G>C	ENST00000261574.5	+	18	1974	c.1794G>C	c.(1792-1794)gtG>gtC	p.V598V	IPO5_ENST00000539640.1_Silent_p.V455V|IPO5_ENST00000490680.1_Silent_p.V580V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	580					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CATCAGATGTGATGCAGCTTT	0.383000													16	28					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70510515	70510515	+	Missense_Mutation	SNP	G	G	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chrX:70510515G>C	ENST00000276079.8	+	3	233	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	NONO_ENST00000373856.3_Missense_Mutation_p.E10Q|NONO_ENST00000373841.1_Missense_Mutation_p.E10Q|NONO_ENST00000535149.1_Intron	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	10					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TTTTAACTTGGAGAAGCAAAA	0.433000			T	TFE3	papillary renal cancer								39	9					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066305	23066305	+	Silent	SNP	A	A	G			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr20:23066305A>G	ENST00000246006.4	-	1	672	c.525T>C	c.(523-525)atT>atC	p.I175I		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	175					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGAAGCCCTCAATGTTACTTC	0.652000													9	29					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682587	100682587	+	Missense_Mutation	SNP	A	A	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:100682587A>C	ENST00000306151.4	+	3	7954	c.7890A>C	c.(7888-7890)gaA>gaC	p.E2630D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2630	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTAGTGAAGTAAGTACTT	0.463000													6	210					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508295	61508295	+	Missense_Mutation	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:61508295G>T	ENST00000398571.2	-	38	5157	c.5081C>A	c.(5080-5082)tCt>tAt	p.S1694Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1694					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAGCAGAAAAGAACGATTGAT	0.398000													10	20					6.42651e-13	7.06916e-13	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135254133	135254133	+	Silent	SNP	G	G	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr6:135254133G>T	ENST00000265605.2	-	5	698	c.630C>A	c.(628-630)acC>acA	p.T210T	ALDH8A1_ENST00000367847.2_Silent_p.T160T|ALDH8A1_ENST00000367845.2_Silent_p.T210T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	210					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCCTGGGCCCGGTTCCAAACA	0.552000													13	11					0.000151284	0.000155043	1	1	0
GIMAP7	168537	broad.mit.edu	37	7	150217217	150217217	+	Missense_Mutation	SNP	G	G	A			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:150217217G>A	ENST00000313543.4	+	2	312	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	52							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCATCCCGGGAATGGCAG	0.507000													13	24					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424754	76424754	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr12:76424754C>T	ENST00000266671.5	-	1	2958	c.768G>A	c.(766-768)atG>atA	p.M256I	PHLDA1_ENST00000602540.1_Missense_Mutation_p.M115I|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	256	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TGCCCTCTGCCATCACCACAG	0.572000													12	19					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184009952	184009952	+	Missense_Mutation	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:184009952C>T	ENST00000402825.3	+	19	2578	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R713C|ECE2_ENST00000357474.5_Missense_Mutation_p.R788C|ECE2_ENST00000404464.3_Missense_Mutation_p.R742C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	860	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCAACTCCCGTGACTTCCT	0.662000													17	37					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951592	119951592	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:119951592C>T	ENST00000307142.4	+	4	1858	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	SYNPO2_ENST00000434046.2_Silent_p.Y554Y|SYNPO2_ENST00000429713.2_Silent_p.Y554Y|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	554						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAAAAGCTACATCGAGGTGA	0.502000													11	37					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75435902	75435902	+	Silent	SNP	C	C	T			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr9:75435902C>T	ENST00000297784.5	+	20	2448	c.1908C>T	c.(1906-1908)taC>taT	p.Y636Y	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.Y636Y|TMC1_ENST00000340019.3_Silent_p.Y636Y	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	636					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATAACTTCTACCTGGGCATGC	0.493000													8	129					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209103820	209103820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr2:209103820delC	ENST00000415913.1	-	9	1510	c.1129delG	c.(1129-1131)gctfs	p.A378fs	IDH1_ENST00000446179.1_Frame_Shift_Del_p.A378fs|IDH1_ENST00000345146.2_Frame_Shift_Del_p.A378fs	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	378					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATGCAAGCAGCCAAGTCCTTG	0.418			Mis		gliobastoma								74	22	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38039624	38039625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr3:38039624_38039625insC	ENST00000283713.6	+	8	1074_1075	c.808_809insC	c.(808-810)accfs	p.T270fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.T270fs|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	270					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAGTTGGCGACCCCCCCACTG	0.644													8	24	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153253821	153253837	+	Frame_Shift_Del	DEL	TGCTTGTAGCAGGTCTT	TGCTTGTAGCAGGTCTT	-	rs150506693	by1000genomes	TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:153253821_153253837delTGCTTGTAGCAGGTCTT	ENST00000281708.4	-	6	2125_2141	c.896_912delAAGACCTGCTACAAGCA	c.(895-912)aaagacctgctacaagcafs	p.KDLLQA299fs	FBXW7_ENST00000603548.1_Frame_Shift_Del_p.KDLLQA299fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.KDLLQA219fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.KDLLQA299fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.KDLLQA123fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.KDLLQA181fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	299	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.Q303*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGTCTGAGCTGCTTGTAGCAGGTCTTTGGGTTCCAG	0.346			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	46	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629069	187629070	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr4:187629069_187629070insC	ENST00000441802.2	-	2	2121_2122	c.1912_1913insG	c.(1912-1914)gtgfs	p.V638fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	638	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGAAAGACACCTTTGCACCT	0.421										HNSCC(5;0.00058)			39	67	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151845346	151845346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr7:151845346delG	ENST00000355193.2	-	53	14055	c.13837delC	c.(13837-13839)cacfs	p.H4613fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.H4556fs					lysine (K)-specific methyltransferase 2C																		CCAATTGTGTGGAAGATGAGG	0.542													20	9	---	---	---	---					
LOC101929066	101929066	broad.mit.edu	37	8	17946060	17946060	+	RNA	DEL	T	T	-	rs142591230		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr8:17946060delT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							GTGAACACTCttttttttttt	0.438													5	5	---	---	---	---					
TSC2	7249	broad.mit.edu	37	16	2121862	2121862	+	Frame_Shift_Del	DEL	C	C	-	rs137854309		TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr16:2121862delC	ENST00000219476.3	+	19	2654	c.2024delC	c.(2023-2025)gcafs	p.A675fs	TSC2_ENST00000382538.6_Frame_Shift_Del_p.A626fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.A675fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.A675fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.A675fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.A686fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.A638fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	675					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCGGCGCCTGCAGGCCCCGCC	0.682			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				2	4	---	---	---	---					
SLC16A11	162515	broad.mit.edu	37	17	6945594	6945594	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr17:6945594delG	ENST00000308009.1	-	3	1244	c.907delC	c.(907-909)caafs	p.Q303fs	SLC16A11_ENST00000447225.1_Frame_Shift_Del_p.Q279fs	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	303						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						ACCCAGCCTTGGTCTGCCAGC	0.731													2	4	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55815036	55815036	+	Splice_Site	DEL	C	C	-			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr19:55815036delC	ENST00000309383.1	+	12	1405	c.1128delC	c.(1126-1128)gac>ga	p.D376fs	BRSK1_ENST00000326848.7_Splice_Site_p.D71fs|BRSK1_ENST00000590333.1_Splice_Site_p.D392fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	376					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GTCCCTCAGACCCCCCCCGGA	0.582													7	64	---	---	---	---					
BFSP1	631	broad.mit.edu	37	20	17477654	17477654	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chr20:17477654delA	ENST00000377873.3	-	7	1010	c.971delT	c.(970-972)ttcfs	p.F324fs	BFSP1_ENST00000536626.1_Frame_Shift_Del_p.F185fs|BFSP1_ENST00000544874.1_Frame_Shift_Del_p.F185fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.F199fs	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	324	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGTTTCAATGAAGGCAGAGGT	0.498													2	4	---	---	---	---					
XIST	7503	broad.mit.edu	37	X	73071846	73071846	+	RNA	DEL	A	A	-			TCGA-YC-A9TC-01A-22D-A391-08	TCGA-YC-A9TC-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1	5feea318-e0fe-4d13-815b-2505a0073b12	g.chrX:73071846delA	ENST00000429829.1	-	0	742					NR_001564.2																						ATGGGCGATGAAAAAAAAAAA	0.413													3	6	---	---	---	---					
