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
IL9R	3581	broad.mit.edu	37	X	155227436	155227436	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:155227436C>A	ENST00000369423.2	+	1	66	c.28C>A	c.(28-30)Cag>Aag	p.Q10K	IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_Silent_p.G4G|IL9R_ENST00000540897.1_5'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGACTGGGCAGATGCATCT	0.542000													10	81					1.58986e-06	1.87194e-06	0.361761	1	0
OR5B2	390190	broad.mit.edu	37	11	58189994	58189994	+	Silent	SNP	G	G	T	rs150284257		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:58189994G>T	ENST00000302581.2	-	1	792	c.741C>A	c.(739-741)tcC>tcA	p.S247S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATAGAAGACGGAGACTGCAG	0.463000													9	46					0.000274275	0.000305681	0.307466	1	0
GAB3	139716	broad.mit.edu	37	X	153924265	153924265	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:153924265C>A	ENST00000369575.3	-	8	1485	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.R486I	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	485										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACCATTTCTTTCTGGAGA	0.373000													14	78					3.35478e-16	4.15082e-16	0.479597	1	0
SLC5A11	115584	broad.mit.edu	37	16	24921693	24921693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:24921693G>A	ENST00000347898.3	+	15	2339	c.1717G>A	c.(1717-1719)Gct>Act	p.A573T	SLC5A11_ENST00000568579.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A417T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A417T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A538T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A538T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	573					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ACCACCAGCAGCTCCCTTGTC	0.542000													25	119					0	0	0.681144	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	58					0	0	0.520397	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000530628.2_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	31					1.87028e-06	2.18449e-06	0.608945	1	0
HDAC7	51564	broad.mit.edu	37	12	48179336	48179336	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:48179336C>T	ENST00000599515.1	+	1	631	c.420C>T	c.(418-420)ttC>ttT	p.F140F	HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000080059.7_Intron																							CCCCAGCCTTCTAGCCACAAG	0.577000													4	9					0	0	0.557998	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889793	1889793	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:1889793C>T	ENST00000357103.4	+	5	891	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	214					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GGTCTCTCGGCTCTTCTCTAA	0.428000													54	258					0	0	0.870114	0	0
LVRN	206338	broad.mit.edu	37	5	115298653	115298653	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:115298653G>A	ENST00000357872.4	+	1	463	c.339G>A	c.(337-339)ccG>ccA	p.P113P	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		113					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AGCTGTGGCCGCAGCTGAGGC	0.701000													6	79					0	0	0.248553	0	0
RIMS2	9699	broad.mit.edu	37	8	105161040	105161040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:105161040C>T	ENST00000436393.2	+	23	3593	c.3352C>T	c.(3352-3354)Cgg>Tgg	p.R1118W	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1157					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCTGTCACGGAAAAGTCG	0.463000										HNSCC(12;0.0054)			20	104					0	0	0.654019	0	0
MYO18B	84700	broad.mit.edu	37	22	26168444	26168444	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:26168444G>T	ENST00000335473.7	+	7	2086	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	MYO18B_ENST00000407587.2_Missense_Mutation_p.Q612H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q612H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	612	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGTCCTCCAGCCCCGGGGGC	0.637000													7	37					2.0095e-06	2.32847e-06	0.248553	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412213	139412213	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:139412213A>T	ENST00000277541.6	-	8	1507	c.1432T>A	c.(1432-1434)Tgc>Agc	p.C478S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGGGCATGCAGATGCACTGG	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	70					0	0	0.361761	0	0
FIGN	55137	broad.mit.edu	37	2	164467456	164467456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:164467456G>A	ENST00000333129.3	-	3	1200	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	296						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCATGGCCCTGGTAGGTGTAG	0.577000													8	78					0	0	0.278610	0	0
FOXP2	93986	broad.mit.edu	37	7	114271582	114271582	+	Splice_Site	SNP	G	G	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:114271582G>C	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						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.?(3)		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						TCTGATACcagcagcagcagc	0.517000													2	4					0	0	0.115264	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038133	16038133	+	Silent	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:16038133C>A	ENST00000326742.7	-	4	415	c.414G>T	c.(412-414)ctG>ctT	p.L138L	CYP4F11_ENST00000402119.3_Silent_p.L138L|CYP4F11_ENST00000248041.7_Silent_p.L138L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	138					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCACCACTCAGCAGGAGCC	0.527000													21	102					0.00229938	0.00248673	0.624587	1	0
MYO16	23026	broad.mit.edu	37	13	109777522	109777522	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:109777522G>A	ENST00000356711.2	+	30	3658	c.3532G>A	c.(3532-3534)Gtg>Atg	p.V1178M	MYO16_ENST00000357550.2_Missense_Mutation_p.V1178M|MYO16_ENST00000457511.2_Missense_Mutation_p.V690M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1178					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAACAAGAGGTGACTTCTAT	0.438000													17	25					0	0	0.500413	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	50					0	0	0.307466	0	0
SCARB1	949	broad.mit.edu	37	12	125270878	125270878	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:125270878G>A	ENST00000415380.2	-	11	1551	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SCARB1_ENST00000540495.1_Missense_Mutation_p.R439W|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.R435W|SCARB1_ENST00000544327.1_Missense_Mutation_p.R422W|SCARB1_ENST00000535005.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	476					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGTCAGCCCGGGCTGCCCTC	0.667000													26	126					0	0	0.693898	0	0
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:123782584C>T	ENST00000420886.2	-	30	3979	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000602398.1_Missense_Mutation_p.G1327D|SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327							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)		CACGTTTGTGCCACTGACAGA	0.428000													4	125					0	0	0.184627	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54891638	54891638	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:54891638G>T	ENST00000293373.6	+	1	144	c.65G>T	c.(64-66)gGt>gTt	p.G22V		NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	22					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATGATCGCGGTCAGGGGGTT	0.453000													5	52					1.23904e-05	1.40232e-05	0.184627	1	0
ITGA9	3680	broad.mit.edu	37	3	37818922	37818922	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:37818922C>T	ENST00000264741.5	+	24	2837	c.2581C>T	c.(2581-2583)Cca>Tca	p.P861S	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	861					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCAGAAAAACCCAACTCCCTG	0.413000													8	49					0	0	0.278610	0	0
SOX13	9580	broad.mit.edu	37	1	204085665	204085665	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:204085665T>C	ENST00000367204.1	+	5	558	c.449T>C	c.(448-450)cTc>cCc	p.L150P	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	150					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAGGAGCTCCAGCTTCTG	0.522000													19	77					0	0	0.592651	0	0
WNK1	65125	broad.mit.edu	37	12	971429	971429	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:971429C>T	ENST00000537687.1	+	8	2775	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	WNK1_ENST00000340908.4_Missense_Mutation_p.S304L|WNK1_ENST00000315939.6_Missense_Mutation_p.S711L|WNK1_ENST00000535572.1_Missense_Mutation_p.S711L|WNK1_ENST00000530271.2_Missense_Mutation_p.S711L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	711					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TATCCACCCTCAAGTGTGGTA	0.428000													17	53					0	0	0.500413	0	0
GLCCI1	113263	broad.mit.edu	37	7	8110681	8110681	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:8110681G>T	ENST00000223145.5	+	6	1654	c.1097G>T	c.(1096-1098)tGt>tTt	p.C366F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	366										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CATTCACCCTGTGTCTCCCCT	0.512000													68	167					2.48295e-43	3.15227e-43	0.870114	1	0
ZNF658	26149	broad.mit.edu	37	9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418000													70	266					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	154672633	154672633	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:154672633G>A	ENST00000404039.1	+	21	2509	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	DPP6_ENST00000427557.1_Missense_Mutation_p.R598H|DPP6_ENST00000332007.3_Missense_Mutation_p.R643H|DPP6_ENST00000377770.3_Missense_Mutation_p.R705H	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	705					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACAGGACGCGCGTGGCCGTG	0.552000													8	68					0	0	0.335167	0	0
WFDC1	58189	broad.mit.edu	37	16	84328674	84328674	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:84328674A>T	ENST00000219454.5	+	1	423	c.97A>T	c.(97-99)Aat>Tat	p.N33Y	WFDC1_ENST00000568638.1_Missense_Mutation_p.N33Y			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	33				N -> D (in Ref. 3; BAC11377).	negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGCCAAGAATATCTGGAA	0.632000													25	120					0	0	0.681144	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768676	31768676	+	Missense_Mutation	SNP	G	G	A	rs143305127		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:31768676G>A	ENST00000240587.4	-	2	2350	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					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)					CACCCATCCCGCGGGGGGCTG	0.652000													15	56					0	0	0.500413	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794840	18794840	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr20:18794840G>A	ENST00000377428.2	+	1	471	c.381G>A	c.(379-381)aaG>aaA	p.K127K	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ACCCGCAGAAGGCTTTCCTTG	0.483000													24	82					0	0	0.654019	0	0
BRMS1	25855	broad.mit.edu	37	11	66109064	66109064	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:66109064C>T	ENST00000359957.3	-	3	330	c.170G>A	c.(169-171)cGc>cAc	p.R57H	BRMS1_ENST00000425825.2_Missense_Mutation_p.R57H	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	57					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						ACACTCGCTGCGGCGTCGCTC	0.582000													5	278					0	0	0.217242	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604645	31604645	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr6:31604645C>T	ENST00000376033.2	+	28	6304	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2024	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding	p.R2024W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGCTGTGCGGCCCCCACC	0.672000													5	209					0	0	0.184627	0	0
RTL1	388015	broad.mit.edu	37	14	101349254	101349254	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:101349254T>A	ENST00000534062.1	-	1	1930	c.1872A>T	c.(1870-1872)caA>caT	p.Q624H		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	624										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGCTCTTTCTTGCATCCTGG	0.547000													4	19					0	0	0.150653	0	0
FAT2	2196	broad.mit.edu	37	5	150930202	150930202	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:150930202C>T	ENST00000261800.5	-	7	4539	c.4527G>A	c.(4525-4527)gtG>gtA	p.V1509V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1509	Cadherin 13.				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)			CCAATTTTCCCACCGTTACCA	0.522000													16	80					0	0	0.575678	0	0
MMP16	4325	broad.mit.edu	37	8	89180109	89180109	+	Silent	SNP	T	T	A	rs144277355		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:89180109T>A	ENST00000286614.6	-	4	779	c.498A>T	c.(496-498)acA>acT	p.T166T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	166					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTTCTTCAAATGTCAGAGGAG	0.423000													9	79					0	0	0.335167	0	0
ASB2	51676	broad.mit.edu	37	14	94413768	94413768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:94413768C>T	ENST00000555019.1	-	7	1409	c.979G>A	c.(979-981)Ggt>Agt	p.G327S	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.G279S	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	279					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCGTCGGCACCCTGTGACAGC	0.612000													19	72					0	0	0.557998	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142407	5142407	+	RNA	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:5142407C>A	ENST00000498233.1	-	0	991																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGCACGCCTCAGAGGATAAC	0.473000													7	35					0.00198382	0.00216147	0.248553	1	0
NKRF	55922	broad.mit.edu	37	X	118723942	118723942	+	Silent	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:118723942C>A	ENST00000371527.1	-	2	2098	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.V482V|NKRF_ENST00000542113.1_Silent_p.V497V	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.V482V(3)|p.V497V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TCTCTAGAATCACTTTGCATT	0.463000													4	239					0.014758	0.0158431	0.184627	1	0
ELAVL4	1996	broad.mit.edu	37	1	50659453	50659453	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:50659453C>T	ENST00000371824.1	+	4	628	c.371C>T	c.(370-372)cCg>cTg	p.P124L	ELAVL4_ENST00000371821.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P124L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P141L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P124L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P127L			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	124	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TATGCCCGTCCGAGCTCTGCC	0.507000													20	113					0	0	0.575678	0	0
OR5M1	390168	broad.mit.edu	37	11	56380079	56380079	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:56380079G>A	ENST00000526538.1	-	1	899	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTGTTGCATGGCAAGGATTA	0.388000													37	190					0	0	0.827153	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923368	43923368	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:43923368C>T	ENST00000329196.5	+	1	1113	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	366						integral to membrane	aspartic-type endopeptidase activity										CGTCCTGCACCGTGTGCGGCT	0.582000													13	34					0	0	0.411799	0	0
SNTG2	54221	broad.mit.edu	37	2	1263157	1263157	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:1263157T>G	ENST00000308624.5	+	13	1150	c.1021T>G	c.(1021-1023)Tgg>Ggg	p.W341G	SNTG2_ENST00000407292.1_Missense_Mutation_p.W214G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	341	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACATTCGATTGGGTGCGAGC	0.383000													12	92					0	0	0.411799	0	0
TFPT	29844	broad.mit.edu	37	19	54613495	54613495	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:54613495G>A	ENST00000391759.1	-	3	697	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	TFPT_ENST00000391757.1_Missense_Mutation_p.R98W|TFPT_ENST00000391758.1_Missense_Mutation_p.R89W	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	98					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCAGGACCCGCTCGTTCACC	0.577000			T	TCF3	pre-B ALL								11	39					0	0	0.435327	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492316	77492316	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:77492316G>A	ENST00000238647.3	-	1	2718	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	607	Pro-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GGTCCGGTTGGAATGGGGTCC	0.726000													3	12					0	0	0.115264	0	0
LOC146880	146880	broad.mit.edu	37	17	62750129	62750129	+	RNA	SNP	G	G	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:62750129G>C	ENST00000400873.3	-	0	2228					NR_026899.1																						TTACCTGAAAGATATTTGAAA	0.383000													80	373					0	0	0.870114	0	0
E2F8	79733	broad.mit.edu	37	11	19252273	19252273	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:19252273G>A	ENST00000527884.1	-	8	1407	c.1175C>T	c.(1174-1176)aCt>aTt	p.T392I	E2F8_ENST00000250024.4_Missense_Mutation_p.T392I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	392					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGTGTCGAGTAAAGTTTGG	0.423000													18	84					0	0	0.539581	0	0
DLGAP1	9229	broad.mit.edu	37	18	3880018	3880018	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:3880018G>A	ENST00000315677.3	-	4	646	c.51C>T	c.(49-51)gaC>gaT	p.D17D	DLGAP1_ENST00000515196.2_Silent_p.D17D|DLGAP1_ENST00000584874.1_Silent_p.D17D|DLGAP1_ENST00000581527.1_Silent_p.D17D|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CACAGGCCGAGTCGCAGGTGA	0.662000													14	27					0	0	0.520397	0	0
EPHA10	284656	broad.mit.edu	37	1	38184465	38184465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:38184465C>T	ENST00000373048.4	-	16	2779	c.2780G>A	c.(2779-2781)cGt>cAt	p.R927H	EPHA10_ENST00000427468.2_Missense_Mutation_p.R927H|EPHA10_ENST00000330210.7_Missense_Mutation_p.R422H|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	927						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGAAGGCACGGTCCGCTAG	0.677000													8	26					0	0	0.278610	0	0
CDH10	1008	broad.mit.edu	37	5	24511576	24511576	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:24511576T>A	ENST00000264463.4	-	6	1369	c.862A>T	c.(862-864)Att>Ttt	p.I288F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	288	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACACTTCCAATGGCTGTGCCA	0.423000										HNSCC(23;0.051)			38	72					0	0	0.812448	0	0
LONRF1	91694	broad.mit.edu	37	8	12594431	12594431	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:12594431T>A	ENST00000398246.3	-	5	1401	c.1332A>T	c.(1330-1332)agA>agT	p.R444S	LONRF1_ENST00000533751.1_Missense_Mutation_p.R87S	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	444					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCAGCTTATTTCTTCCATCTT	0.308000													9	28					0	0	0.307466	0	0
CCDC42	146849	broad.mit.edu	37	17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:8638565C>T	ENST00000293845.3	-	6	948	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_ENST00000539522.2_Missense_Mutation_p.R167H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562000													5	56					0	0	0.184627	0	0
CRYBG3	131544	broad.mit.edu	37	3	97662106	97662106	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:97662106A>G	ENST00000182096.4	+	19	3081	c.3017A>G	c.(3016-3018)aAt>aGt	p.N1006S	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.N213S	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTAATTGTAAATCAGCCCCTG	0.358000													17	41					0	0	0.520397	0	0
ATP11C	286410	broad.mit.edu	37	X	138864754	138864754	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:138864754T>A	ENST00000370557.1	-	18	2931	c.1904A>T	c.(1903-1905)gAt>gTt	p.D635V	ATP11C_ENST00000327569.3_Missense_Mutation_p.D638V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.D638V|ATP11C_ENST00000361648.2_Missense_Mutation_p.D638V|ATP11C_ENST00000359686.2_Missense_Mutation_p.D638V			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTCTCAATATCATCGAAAAC	0.338000													15	84					0	0	0.479597	0	0
TRANK1	9881	broad.mit.edu	37	3	36899181	36899181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:36899181G>A	ENST00000301807.6	-	12	2147	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q84*|TRANK1_ENST00000429976.2_Nonsense_Mutation_p.Q634*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	634					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTTGAGCTGAGATGTGTGA	0.582000													23	102					0	0	0.639603	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128895151	128895151	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:128895151G>A	ENST00000371106.3	+	17	1694	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	501					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTTCCAGGGCGAATGGTGGAG	0.547000													6	48					0	0	0.217242	0	0
MYOCD	93649	broad.mit.edu	37	17	12639605	12639605	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:12639605C>T	ENST00000425538.1	+	6	743	c.543C>T	c.(541-543)gaC>gaT	p.D181D	MYOCD_ENST00000343344.4_Silent_p.D181D|MYOCD_ENST00000395988.1_Silent_p.D85D	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	181	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488000													26	119					0	0	0.717897	0	0
PDLIM7	9260	broad.mit.edu	37	5	176910984	176910984	+	Splice_Site	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:176910984C>A	ENST00000355841.2	-	12	1238		c.e12-1		PDLIM7_ENST00000505746.1_Splice_Site|PDLIM7_ENST00000359895.2_Splice_Site|PDLIM7_ENST00000356618.4_Splice_Site	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)						cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TTCTCATAGTCTGAGAATGGG	0.577000													8	72					0.27861	0.286459	0.278610	1	0
ZC3HC1	51530	broad.mit.edu	37	7	129679338	129679338	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:129679338C>T	ENST00000358303.4	-	4	543	c.459G>A	c.(457-459)gaG>gaA	p.E153E	ZC3HC1_ENST00000481503.1_Silent_p.E153E|ZC3HC1_ENST00000311873.5_Silent_p.E132E|ZC3HC1_ENST00000360708.5_Silent_p.E153E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	153					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AACAGAACTTCTCATGGGCAG	0.388000													5	60					0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9056421	9056421	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:9056421G>A	ENST00000397910.4	-	3	31228	c.31025C>T	c.(31024-31026)tCt>tTt	p.S10342F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10344	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5975Y(1)|p.S10342Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGTTGAAGAATCAGTGGT	0.532000													20	54					0	0	0.624587	0	0
KCNH7	90134	broad.mit.edu	37	2	163374452	163374452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:163374452G>A	ENST00000332142.5	-	4	779	c.680C>T	c.(679-681)cCc>cTc	p.P227L	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.P227L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	227					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTCACCAAGGGAGAACATTT	0.483000													11	134					0	0	0.361761	0	0
OR6K2	81448	broad.mit.edu	37	1	158670019	158670019	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:158670019G>T	ENST00000359610.2	-	1	467	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAGTCAGTTGGGTACATAGC	0.473000													8	60					3.09899e-07	3.67847e-07	0.307466	1	0
CREBBP	1387	broad.mit.edu	37	16	3817904	3817904	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:3817904C>T	ENST00000262367.5	-	16	3876	c.3067G>A	c.(3067-3069)Gag>Aag	p.E1023K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E985K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1023					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATCCTCCTCCATCATCTTG	0.388000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						22	132					0	0	0.624587	0	0
MTMR11	10903	broad.mit.edu	37	1	149902780	149902780	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:149902780C>T	ENST00000361405.6	-	8	1011	c.761G>A	c.(760-762)aGt>aAt	p.S254N	MTMR11_ENST00000369140.3_Silent_p.E384E|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000439741.2_Silent_p.E456E			A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAAGGAAAAACTCAGAGAATT	0.498000													4	86					0	0	0.150653	0	0
CHST9	83539	broad.mit.edu	37	18	24496367	24496367	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:24496367C>G	ENST00000284224.8	-	6	1465	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K396N|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	396					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AGTGCCTATCCTTAAAGTTGG	0.368000													47	165					0	0	0.870114	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911937	100911937	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:100911937G>A	ENST00000328766.5	-	5	1091	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ARMCX2_ENST00000330154.2_Missense_Mutation_p.S213L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.S213L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	213	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTCGGTAGGCGATGCCACCCC	0.647000													8	54					0	0	0.307466	0	0
MLLT10	8028	broad.mit.edu	37	10	21959517	21959517	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr10:21959517G>C	ENST00000377072.3	+	10	1283	c.935G>C	c.(934-936)gGg>gCg	p.G312A	MLLT10_ENST00000377059.3_Missense_Mutation_p.G312A|MLLT10_ENST00000446906.2_Missense_Mutation_p.G312A|MLLT10_ENST00000307729.7_Missense_Mutation_p.G312A	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	312	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAGACTAGAGGGTCAGAGGGC	0.468000			T	"""MLL, PICALM, CDK6"""	AL								6	45					0	0	0.217242	0	0
CPLX4	339302	broad.mit.edu	37	18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:56963955G>A	ENST00000299721.3	-	3	644	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	153					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.A153V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498000													13	60					0	0	0.479597	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715181	77715181	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:77715181G>A	ENST00000298351.4	+	20	1980	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	612						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGGTGATGGCGTACAGCATCA	0.562000													4	188					0	0	0.248553	0	0
FSIP2	401024	broad.mit.edu	37	2	186670435	186670435	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:186670435A>G	ENST00000343098.5	+	17	16669	c.16669A>G	c.(16669-16671)Aca>Gca	p.T5557A	FSIP2_ENST00000424728.1_Missense_Mutation_p.T5468A	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAATAGAGGTACAATGAATAG	0.323000													6	59					0	0	0.217242	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289188	68289188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:68289188C>T	ENST00000219345.5	+	4	490	c.407C>T	c.(406-408)tCc>tTc	p.S136F	PLA2G15_ENST00000566188.1_Missense_Mutation_p.S136F|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Missense_Mutation_p.P84S	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	136					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TCTACAGGTTCCTATTTCCAC	0.557000													8	28					0	0	0.307466	0	0
SCN9A	6335	broad.mit.edu	37	2	167055551	167055551	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:167055551C>A	ENST00000303354.6	-	27	5941	c.5601G>T	c.(5599-5601)agG>agT	p.R1867S	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1867S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1866S|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1855S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1866						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGACATGAACCTTTCTTCCA	0.443000													13	117					0.00136819	0.00150193	0.411799	1	0
SEL1L3	23231	broad.mit.edu	37	4	25783863	25783863	+	Splice_Site	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr4:25783863C>T	ENST00000399878.3	-	15	2580		c.e15+1		SEL1L3_ENST00000502949.1_Splice_Site|SEL1L3_ENST00000264868.5_Splice_Site	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)							integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTCCTACTCACTTGATTCCTT	0.483000													34	167					0	0	0.779181	0	0
KANK1	23189	broad.mit.edu	37	9	713311	713311	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:713311G>A	ENST00000382303.1	+	7	3197	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A691T|KANK1_ENST00000382297.2_Missense_Mutation_p.A849T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	849					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGTGAACTGGCAGAAGCTTT	0.517000													4	180					0	0	0.150653	0	0
PDE6A	5145	broad.mit.edu	37	5	149265901	149265901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:149265901C>T	ENST00000255266.5	-	14	1884	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	589					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGCCAAGGCCTCTAGGTCC	0.537000													10	38					0	0	0.335167	0	0
PLBD1	79887	broad.mit.edu	37	12	14659876	14659876	+	Nonsense_Mutation	SNP	G	G	A	rs145582746		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:14659876G>A	ENST00000240617.5	-	9	2015	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	455					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTGTATCGCATGATATAT	0.403000													23	112					0	0	0.654019	0	0
USF1	7391	broad.mit.edu	37	1	161011574	161011574	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:161011574C>T	ENST00000368021.3	-	6	543	c.339G>A	c.(337-339)gaG>gaA	p.E113E	USF1_ENST00000368020.1_Silent_p.E113E|USF1_ENST00000435396.1_Silent_p.E54E|USF1_ENST00000368019.1_Silent_p.E113E	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	113					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TATAGTGCGTCTCAGCAGCTG	0.567000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	83					0	0	0.539581	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332442	22332442	+	RNA	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:22332442C>T	ENST00000558896.1	+	0	249																											CGTGACAGAACTTGTTCTTCT	0.353000													9	123					0	0	0.435327	0	0
ACSM5	54988	broad.mit.edu	37	16	20432686	20432686	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:20432686C>A	ENST00000331849.4	+	5	877	c.730C>A	c.(730-732)Cag>Aag	p.Q244K		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	244					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CGAGCACTCCCAGAGCAGCTA	0.577000													8	41					5.18039e-06	5.95541e-06	0.278610	1	0
USH2A	7399	broad.mit.edu	37	1	215802185	215802185	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:215802185C>T	ENST00000366943.2	-	72	15948	c.15562G>A	c.(15562-15564)Gaa>Aaa	p.E5188K	USH2A_ENST00000307340.3_Missense_Mutation_p.E5164K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5164					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATGGCTTCCCACAGTGAG	0.493000										HNSCC(13;0.011)			9	104					0	0	0.387290	0	0
INSR	3643	broad.mit.edu	37	19	7122639	7122639	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:7122639G>A	ENST00000341500.5	-	18	3518	c.3479C>T	c.(3478-3480)aCt>aTt	p.T1160I	INSR_ENST00000302850.5_Missense_Mutation_p.T1172I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1172	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATTTTGACAGTAAAATCATG	0.488000													3	94					0	0	0.184627	0	0
EPHA4	2043	broad.mit.edu	37	2	222429107	222429107	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:222429107T>G	ENST00000281821.2	-	3	208	c.167A>C	c.(166-168)gAa>gCa	p.E56A	EPHA4_ENST00000409854.1_Missense_Mutation_p.E56A|EPHA4_ENST00000392071.4_Missense_Mutation_p.E5A|EPHA4_ENST00000409938.1_Missense_Mutation_p.E56A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	56						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GATACTCACTTCCTCCCACTG	0.403000													30	118					0	0	0.717897	0	0
SCN10A	6336	broad.mit.edu	37	3	38793780	38793780	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:38793780G>T	ENST00000449082.2	-	11	1684	c.1685C>A	c.(1684-1686)tCc>tAc	p.S562Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	562					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCATGCCTGGAGTCAGGGTT	0.607000													24	76					7.07758e-08	8.53989e-08	0.681144	1	0
NPC1L1	29881	broad.mit.edu	37	7	44560609	44560609	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:44560609T>C	ENST00000289547.4	-	13	3117	c.3062A>G	c.(3061-3063)aAc>aGc	p.N1021S	NPC1L1_ENST00000546276.1_Missense_Mutation_p.N975S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N1021S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1021					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACATTTGATGTTGGGCCGGTC	0.547000													50	264					0	0	0.870114	0	0
DHODH	1723	broad.mit.edu	37	16	72057436	72057436	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:72057436G>A	ENST00000572887.1	+	8	1208	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	DHODH_ENST00000219240.4_Missense_Mutation_p.R346Q			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	346					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GAGAAGATCCGGGCAGGGGCC	0.607000													29	113					0	0	0.717897	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699100	48699100	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:48699100A>T	ENST00000354983.4	+	33	6275	c.5903A>T	c.(5902-5904)gAt>gTt	p.D1968V	CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D2002V|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1991V|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1931V|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510115.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2002					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCTGACGGATGACTCTTTG	0.547000													5	67					0	0	0.184627	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198588	170198588	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:170198588G>T	ENST00000231706.4	-	7	1798	c.1483C>A	c.(1483-1485)Ctc>Atc	p.L495I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	495						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTCCCTATGAGCATCTCATTG	0.498000													38	257					2.05212e-20	2.56076e-20	0.812448	1	0
LCP1	3936	broad.mit.edu	37	13	46725072	46725072	+	Splice_Site	SNP	T	T	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:46725072T>C	ENST00000398576.2	-	11	1269	c.882_splice	c.e11+1	p.K294_splice	LCP1_ENST00000323076.2_Splice_Site_p.K294_splice			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	294	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCTCCTACCTTGATGTCAGT	0.448000			T	BCL6	NHL								51	99					0	0	0.870114	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531971	71531971	+	Missense_Mutation	SNP	C	C	A	rs140330026	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:71531971C>A	ENST00000393330.2	-	8	853	c.301G>T	c.(301-303)Gcg>Tcg	p.A101S	TSPAN8_ENST00000552128.1_Missense_Mutation_p.A18S|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A101S|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A101S			P19075	TSN8_HUMAN	tetraspanin 8	101					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATACCTGTCGCCACCTGCAGG	0.393000													28	144					1.32181e-22	1.66366e-22	0.717897	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461594	5461594	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:5461594A>T	ENST00000296564.7	+	13	2369	c.2147A>T	c.(2146-2148)aAt>aTt	p.N716I		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	716										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCTAATTTTAATGATCAGAAG	0.398000													22	36					0	0	0.639603	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788183	3788183	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:3788183T>A	ENST00000440314.2	-	6	895	c.422A>T	c.(421-423)tAt>tTt	p.Y141F	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Y141F|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Y141F	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	141					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTGGACAGATACACCTTCTC	0.557000													13	110					0	0	0.500413	0	0
TBCK	93627	broad.mit.edu	37	4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr4:107156504G>T	ENST00000273980.4	-	16	1818	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	TBCK_ENST00000432496.2_Missense_Mutation_p.N457K|TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000361687.4_Missense_Mutation_p.N394K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	457						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCAGATTTGGTTTTTTTTAT	0.363000													3	27					0.115264	0.121069	0.115264	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639239	149639239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:149639239G>T	ENST00000370401.2	+	4	1704	c.1394G>T	c.(1393-1395)aGc>aTc	p.S465I	MAMLD1_ENST00000426613.2_Missense_Mutation_p.S440I|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S465I|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S440I			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	465					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTCTCTAGCCCAGGCTTG	0.582000													18	183					2.48551e-13	3.04944e-13	0.520397	1	0
CEP95	90799	broad.mit.edu	37	17	62533733	62533733	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:62533733G>T	ENST00000556440.2	+	20	2812	c.2302G>T	c.(2302-2304)Gtg>Ttg	p.V768L	CEP95_ENST00000553412.1_Missense_Mutation_p.V604L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	768						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ATTACATAAGGTGAAGAGGGA	0.443000													5	29					0.0215528	0.0229686	0.217242	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	144					0	0	0.150653	0	0
ZMYM5	9205	broad.mit.edu	37	13	20399104	20399104	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:20399104T>G	ENST00000337963.4	-	8	1787	c.1523A>C	c.(1522-1524)aAt>aCt	p.N508T		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	508						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gtcttcaaaatttttctcttc	0.413000													2	14					0	0	0.115264	0	0
PRDM10	56980	broad.mit.edu	37	11	129794873	129794873	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:129794873G>A	ENST00000358825.5	-	13	2025	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PRDM10_ENST00000528746.1_Silent_p.D568D|PRDM10_ENST00000526082.1_Silent_p.D512D|PRDM10_ENST00000304538.6_Silent_p.D508D|PRDM10_ENST00000360871.3_Silent_p.D594D|PRDM10_ENST00000423662.2_Silent_p.D512D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AATCAAGGCGGTCAAAGGATT	0.453000													4	198					0	0	0.184627	0	0
TERT	7015	broad.mit.edu	37	5	1294259	1294259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:1294259G>A	ENST00000310581.5	-	2	799	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TERT_ENST00000334602.6_Missense_Mutation_p.R248W|TERT_ENST00000296820.5_Missense_Mutation_p.R248W|TERT_ENST00000508104.2_Missense_Mutation_p.R248W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	248	Linker.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGGGCGTCCGCTCCGGCTCA	0.736000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	8					0	0	0.150653	0	0
PSIP1	11168	broad.mit.edu	37	9	15465561	15465561	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:15465561C>G	ENST00000380733.4	-	16	1893	c.1550G>C	c.(1549-1551)aGa>aCa	p.R517T	PSIP1_ENST00000380738.4_Missense_Mutation_p.R517T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	517					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCAGTCTCTCTCTCTTCACT	0.363000													24	148					0	0	0.706142	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68151121	68151121	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:68151121C>T	ENST00000262215.3	-	21	3376	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R450K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	996					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATATGCATCTCTCTCCAGCTA	0.358000													16	66					0	0	0.500413	0	0
DNAH5	1767	broad.mit.edu	37	5	13807734	13807734	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:13807734T>A	ENST00000265104.4	-	47	7957	c.7853A>T	c.(7852-7854)aAt>aTt	p.N2618I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2618	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAAGAAAAATTCAGACTCTT	0.388000									Kartagener syndrome				7	24					0	0	0.248553	0	0
HOOK1	51361	broad.mit.edu	37	1	60309254	60309254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:60309254C>T	ENST00000371208.3	+	9	1029	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q216*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	258	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGAACAATTACAGGAAGAAAA	0.328000													6	60					0	0	0.217242	0	0
MON2	23041	broad.mit.edu	37	12	62954394	62954394	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:62954394C>A	ENST00000393630.3	+	27	3927	c.3536C>A	c.(3535-3537)cCt>cAt	p.P1179H	MON2_ENST00000546600.1_Missense_Mutation_p.P1178H|MON2_ENST00000280379.6_Missense_Mutation_p.P1179H|MON2_ENST00000393632.2_Missense_Mutation_p.P1178H|MON2_ENST00000552738.1_Missense_Mutation_p.P1155H|MON2_ENST00000393629.2_Missense_Mutation_p.P1178H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1179					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTGTGTCCCCTGTCAGAGAC	0.448000													11	71					0.000673444	0.00074487	0.361761	1	0
TXN2	25828	broad.mit.edu	37	22	36876729	36876729	+	Missense_Mutation	SNP	T	T	C	rs146269725	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:36876729T>C	ENST00000216185.2	-	2	622	c.156A>G	c.(154-156)atA>atG	p.I52M	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.I52M|TXN2_ENST00000416967.1_De_novo_Start_InFrame			Q99757	THIOM_HUMAN	thioredoxin 2	52					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						TCGTGGTGTATATTGTCCGGG	0.547000													24	89					0	0	0.639603	0	0
PTPRN	5798	broad.mit.edu	37	2	220162103	220162103	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:220162103C>T	ENST00000295718.2	-	14	2180	c.1940G>A	c.(1939-1941)gGt>gAt	p.G647D	PTPRN_ENST00000409251.3_Missense_Mutation_p.G618D|PTPRN_ENST00000423636.2_Missense_Mutation_p.G557D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	647					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTCCGGTGGACCCTCTGCCCG	0.632000													12	71					0	0	0.387290	0	0
HMGN4	10473	broad.mit.edu	37	6	26545528	26545528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr6:26545528C>T	ENST00000377575.2	+	2	271	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						GTCTGCTAAACCAGCTCCTCC	0.502000													15	48					0	0	0.457914	0	0
NRP2	8828	broad.mit.edu	37	2	206628571	206628571	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:206628571A>G	ENST00000360409.3	+	13	3009	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G	NRP2_ENST00000412873.2_Missense_Mutation_p.S740G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000272849.3_Missense_Mutation_p.S740G|NRP2_ENST00000540178.1_Missense_Mutation_p.S740G|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000540841.1_Missense_Mutation_p.S740G|NRP2_ENST00000357785.5_Missense_Mutation_p.S740G|NRP2_ENST00000357118.4_Missense_Mutation_p.S740G|AC007362.3_ENST00000598710.1_RNA	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	740	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGCCAGGAGAGCAAGTTGCT	0.677000											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	69					0	0	0.387290	0	0
ANKH	56172	broad.mit.edu	37	5	14716935	14716935	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:14716935C>T	ENST00000284268.6	-	9	1351	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	ANKH_ENST00000535119.1_Missense_Mutation_p.V143M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	341					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAAACATCACGAAACAGAGC	0.453000													4	33					0	0	0.248553	0	0
TPTE2	93492	broad.mit.edu	37	13	20000607	20000607	+	Silent	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:20000607A>G	ENST00000400230.2	-	18	1397	c.1353T>C	c.(1351-1353)ggT>ggC	p.G451G	TPTE2_ENST00000382978.1_Silent_p.G411G|TPTE2_ENST00000382975.4_Silent_p.G411G|TPTE2_ENST00000255310.6_Silent_p.G374G|TPTE2_ENST00000457266.2_Silent_p.G340G|TPTE2_ENST00000400103.2_Silent_p.G340G|TPTE2_ENST00000390680.2_Silent_p.G374G|TPTE2_ENST00000382977.4_Silent_p.G451G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAGAGGTGGACCGTCATATA	0.338000													24	88					0	0	0.667858	0	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													4	146					0.150653	0.155996	0.150653	1	0
NXPE2	120406	broad.mit.edu	37	11	114569215	114569215	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:114569215T>A	ENST00000375475.5	+	3	679	c.581T>A	c.(580-582)aTc>aAc	p.I194N	NXPE2_ENST00000389586.4_Missense_Mutation_p.I194N					neurexophilin and PC-esterase domain family, member 2																		CTGCTGCTCATCCACCCCAGT	0.542000													4	27					0	0	0.150653	0	0
PTPRF	5792	broad.mit.edu	37	1	44075146	44075146	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:44075146G>A	ENST00000359947.4	+	22	4290	c.3950G>A	c.(3949-3951)cGg>cAg	p.R1317Q	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1317Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R665Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1308Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1308Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1317					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGAGATGCGGAGGCTCAAC	0.602000													3	42					0	0	0.150653	0	0
GSAP	54103	broad.mit.edu	37	7	76984548	76984548	+	Silent	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:76984548C>A	ENST00000257626.7	-	16	1398	c.1320G>T	c.(1318-1320)gcG>gcT	p.A440A		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CCAGGAACTGCGCACCTTGAC	0.473000													13	75					5.50884e-06	6.28352e-06	0.411799	1	0
PES1	23481	broad.mit.edu	37	22	30976074	30976074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:30976074C>T	ENST00000402281.1	-	13	1709	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	379	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGGCCGGTCGACAATCTGA	0.572000													31	129					0	0	0.819951	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580593	178580593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:178580593C>T	ENST00000251582.7	-	9	1515	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A472T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	472					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCGTGGGCGAAGGGGTCA	0.657000													5	20					0	0	0.184627	0	0
ZNF770	54989	broad.mit.edu	37	15	35274909	35274909	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:35274909C>T	ENST00000356321.4	-	3	1071	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCCCGAAAAGCCTTATTCCTA	0.363000													20	51					0	0	0.624587	0	0
CYP51A1	1595	broad.mit.edu	37	7	91756928	91756928	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:91756928C>T	ENST00000003100.8	-	4	651	c.486G>A	c.(484-486)aaG>aaA	p.K162K	CYP51A1_ENST00000450723.1_Silent_p.K57K|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	156					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	TTAACATTTTCTTCTGCTCCA	0.303000													4	53					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179435645	179435645	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:179435645C>G	ENST00000589042.1	-	326	75438	c.75214G>C	c.(75214-75216)Gtt>Ctt	p.V25072L	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16007L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23431L|TTN_ENST00000359218.5_Missense_Mutation_p.V16132L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22504L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16199L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23431	Fibronectin type-III 82.						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)			TGATCTTCAACTAGGCCAGTT	0.418000													37	158					0	0	0.779181	0	0
MYH4	4622	broad.mit.edu	37	17	10351237	10351237	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:10351237C>T	ENST00000255381.2	-	34	4973	c.4863G>A	c.(4861-4863)aaG>aaA	p.K1621K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1621					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCCTCCATCTTCTTCTTGA	0.458000													9	278					0	0	0.361761	0	0
MACF1	23499	broad.mit.edu	37	1	39905138	39905138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:39905138C>T	ENST00000564288.1	+	72	19190	c.18413C>T	c.(18412-18414)cCt>cTt	p.P6138L	MACF1_ENST00000539005.1_Missense_Mutation_p.P3949L|MACF1_ENST00000289893.4_Missense_Mutation_p.P4581L|MACF1_ENST00000545844.1_Missense_Mutation_p.P4079L|MACF1_ENST00000317713.7_Missense_Mutation_p.P4079L|MACF1_ENST00000372915.3_Missense_Mutation_p.P6037L|MACF1_ENST00000361689.2_Missense_Mutation_p.P4079L|MACF1_ENST00000567887.1_Missense_Mutation_p.P6175L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6146					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCATTGATCCTTCCATCATC	0.433000													9	62					0	0	0.335167	0	0
MARS	4141	broad.mit.edu	37	12	57909809	57909809	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:57909809A>C	ENST00000315473.5	+	18	2447	c.1796A>C	c.(1795-1797)aAc>aCc	p.N599T	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					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)	TCGCTCCACAACAGCCACAGC	0.488000													8	24					0	0	0.608945	0	0
TCHH	7062	broad.mit.edu	37	1	152081483	152081495	+	Frame_Shift_Del	DEL	GCTCCTGGCAGCG	GCTCCTGGCAGCG	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:152081483_152081495delGCTCCTGGCAGCG	ENST00000368804.1	-	2	4197_4209	c.4198_4210delCGCTGCCAGGAGC	c.(4198-4212)gcfs	p.RCQER1400fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation).		keratinization	cytoskeleton	calcium ion binding	p.R1400P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGCTCGCGCTCCTGGCAGCGCAGCTGCTGT	0.577													17	95	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	48	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284885	38284886	+	RNA	INS	-	-	GGGT	rs138091320	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:38284885_38284886insGGGT	ENST00000436911.2	-	0	330																											TATTTGTCAAGgtgtgtgtgtg	0.391													28	22	---	---	---	---					
LYN	4067	broad.mit.edu	37	8	56864535	56864538	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:56864535_56864538delTCTG	ENST00000520220.2	+	7	709_712	c.435_438delTCTG	c.(433-438)tcfs	p.SL145fs	LYN_ENST00000519728.1_Frame_Shift_Del_p.SL166fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	166	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAAGCTTCTCTCTGTCTGTCAGAG	0.377													22	212	---	---	---	---					
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													15	47	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506229	11506231	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:11506229_11506231delTGC	ENST00000500254.2	-	4	444_446	c.407_409delGCA	c.(406-411)aag>a	p.SK136del	PRB1_ENST00000545626.1_In_Frame_Del_p.SK116del|PRB1_ENST00000546254.1_In_Frame_Del_p.SK136del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	330	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTGGGACTTGCTGCCTCCTTG	0.596													22	902	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													9	258	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25169014	25169015	+	RNA	INS	-	-	TAG			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:25169014_25169015insTAG	ENST00000453498.1	+	0	1173																											actgactggaaagagagttagg	0.470													7	19	---	---	---	---					
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs112427980	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55																											TGACTCTTTTTTAAAAAAACAG	0.450													8	13	---	---	---	---					
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:73044826_73044827insT	ENST00000311669.8	-	7	1439_1440	c.1346_1347insA	c.(1345-1347)accfs	p.T449fs	ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.T175fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.490													7	145	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													8	17	---	---	---	---					
NUDT21	11051	broad.mit.edu	37	16	56485075	56485076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:56485075_56485076insC	ENST00000300291.5	-	1	211_212	c.39_40insG	c.(37-42)tgcccgfs	p.C13fs		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	13	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCCCCCGGGGCCAGCCGGTCT	0.658													44	119	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													3	3	---	---	---	---					
NOS2P1	645740	broad.mit.edu	37	17	25988721	25988728	+	RNA	DEL	CCAGTCCT	CCAGTCCT	-	rs72290380		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:25988721_25988728delCCAGTCCT	ENST00000583179.1	-	0	1956_1963																											ACCAGGTGAGCCAGTCCTACCGATGGCA	0.481													3	3	---	---	---	---					
KAT2A	2648	broad.mit.edu	37	17	40272817	40272818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:40272817_40272818insC	ENST00000225916.5	-	2	422_423	c.369_370insG	c.(367-372)tgaaaafs	p.*123fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.*157fs	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	123					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.K124E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGGTTTTTCCAGCCATTAC	0.584													27	66	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2865)cagfs	p.Q955fs	LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													13	37	---	---	---	---					
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)ccfs	p.P29fs	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602													2	4	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)gaafs	p.E440fs	DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559													89	129	---	---	---	---